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Desmoid tumor

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2], Faizan Sheraz, M.D. [3]

Synonyms and keywords: Aggressive fibromatosis, Deep musculoaponeurotic fibromatosis, Deep fibromatosis, Familial infiltrative fibromatosis, Hereditary Desmoid tumor, Musculoaponeurotic fibromatosis, Nonmetastasizing fibrosarcoma, Fibromatosis of soft tissue, Grade I fibromatosis, Well-differentiated non-metastasizing fibromatosis

Overview

Overview


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

Desmoid tumors are the benign tumors that arise from monoclonal proliferation of well-differentiated fibroblasts (which are found throughout the body). Main function of fibroblasts is in wound healing and to provide structural support and protection to the vital organs such as lung, liver, blood vessels, heart, kidneys, skin, intestines. Depending upon the underlying etiology, desmoid tumors can be classified as abdominal, intra-abdominal, extra-abdominal, multiple familial, associated with Gardner syndrome and associated with Turcot syndrome. Desmoids can arise in virtually any part of the body. Desmoids appear as well-differentiated, firm overgrowths of fibrous tissue with marked cellularity and aggressive local infiltration. Histologically, desmoid tumors consist of linearly arranged elongated fibroblasts and myofibroblasts surrounded and separated from each other by collagen. Most common frequent causes of desmoid tumors at molecular level include mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC, all involved in Wnt/beta-catenin signaling pathway. Pediatric desmoid tumors have AKT1 E17K, BRAF V600E and TP53 R273H mutations also in addition to CTNNB1 mutations. Desmoid tumors account for approximately 0.03 percent of all neoplasm and less than 3% of all the soft tissue tumors.They are more common in women (of fertile age) than men, and mostly occur in age of 30’s to 40’s. These tumors can be slow growing or extremely aggressive, musculoaponeurotic tumors without any metastatic potential. When they are aggressive they can cause life threatening problems or even death due to compression of vital organs such as the intestines, kidneys, lungs, blood vessels, and nerves. Common risk factors for desmoid tumors include personal or family history of FAP, Gardner syndrome, Turcot syndrome, female gender, pregnancy, estrogen therapy, history of antecedent surgical or accidental trauma or irradiation at the tumor site, history of breast cancer and androgens.

Desmoids may be diagnosed on an imaging test done for another reason in asymptomatic patients. In symptomatic patients, it can present as a painless or painful mass/lump, insomnia, difficulty moving, nausea, vomiting, anxiety depending upon size and location of tumor. Gold standard for diagnosis is histological examination of a biopsy specimen followed by immunohistochemistry for nuclear beta-catenin. Various imaging studies like CT, MRI, ultrasonography, color doppler, plain radiograph and angiography may aid in further diagnosis and deciding treatment strategy especially for highly recurrent tumors. Wait and watch therapy is applied for treatment of asymptomatic patients. For symptomatic patients various therapeutic options are available such as surgery, radiation therapy, tumor ablation and medical therapy with chemotherapeutic agents, anti-hormonal agents, NSAIDs and tyrosine kinase inhibitors.

Historical Perspective

Muller first coined the term desmoid in 1858 to describe tumors with tendon-like consistency. It origniates from a Greek word “desmos” meaning band or tendon-like. Gradner first described the development of desmoid tumors in FAP patients in 1951.

Classification

Depending upon the underlying etiology, desmoid tumors can be classified as abdominal, intra-abdominal, extra-abdominal, multiple familial, associated with Gardner syndrome and associated with Turcot syndrome.

Pathophysiology

Desmoid tumors are benign tumors arising from monoclonal proliferation of well-differentiated fibroblasts. They appear as firm overgrowths of fibrous tissue with marked cellularity and aggressive local infiltration. The exact etiology remains uncertain, however, they are seem to be associated with antecedent surgical or accidental trauma at the tumor site and various mutations at the molecular level including beta-catenin gene, CTNNB1 or APC gene involved in Wnt/beta-catenin signaling pathway. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutation. Immunohistochemistry shows an elevated beta-catenin protein level in all tumors, regardless of the mutational status. Associated conditions include Turcot syndrome, Gardner syndrome, Familial adenomatous polyposis and estrogen therapy. Desmoid tumors arise from connective tissue, fasciae and aponeuroses and appear as dense scar tissue with most common sites of abdominal involvement being abdominal wall, root of the mesentery and retroperitoneum. Histologically, desmoid tumors consist of linearly arranged elongated fibroblasts and myofibroblas surrounded and separated from each other by collagen. These tumors show a tendency to evolve over time.

Causes

The exact etiology of desmoid tumors is unknown. However, Wnt/beta-catenin signaling pathway, APC mutations, CTNNB1 (beta-catenin) gene mutations, sporadic tumors and trisomy 8 and trisomy 20 seem to play a role in development of sporadic desmoids in adults. Familial desmoids in FAP patients are associated with germline APC mutations. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutations.

Differentiating Desmoid tumor from other Diseases

Extra-abdominal desmoid tumor must be differentiated from fibrosarcoma, low-grade fibromyxoid sarcoma and Gardner fibroma. Intra-abdominal desmoid tumor must be differentiated from gastrointestinal stromal tumor (GIST), benign fibrous tumor/solitary fibrous tumor (SFT), inflammatory myofibroblastic tumor (IMT), sclerosing mesenteritis and retroperitoneal fibrosis. Furthermore, generally all desmoid tumors must be differentiated from acute hematoma, lymphoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, nodular fasciitis, hypertrophic scars,keloids and primitive neuroectodermal tumor.

Epidemiology and Demographics

Desmoid tumor accounts for 0.03% of all tumors and less than 3% of all the soft tissue tumors. It affects 1 to 2 per 500,000 people worldwide. Incidence of desmoid tumor is approximately two to four per million population per year in general population. Familial desmoids are present in 10% to 25% of FAP patients. Gender ratio is 2:1 for females to males and commonly affects individuals between 20 to 60 years of age.

Risk Factors

Common risk factors for the development of desmoid tumor include personal or family history of familial adenomatous polyposis (FAP), Gardner syndrome, Turcot syndrome, specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3′ of codon 1444, family history of desmoid tumor, estrogen therapy, oral contraceptive pills, pregnancy, history of antecedent surgical or accidental trauma or repeated irradiation at the tumor site, female gender and androgens.

Natural History, Complications and Prognosis

Desmoids can develop virtually at any site of body causing wide range of clinical symptoms depending on size and tumor location or they can cause no symptoms at all. They may be accidentally picked up on a scan or a routine physical examination done for other medical reasons. They might grow aggressively or slowly or remian stable, hence, exhibiting wide range of behaviors in different individuals. Common complications of desmoid tumor include progression to agressive fibromatosis, involvement of intra-abdominal viscera that may lead to rupture of intestines, compression of the kidneys or ureters, rectal bleeding, compression of critical blood vessels such as the mesenteric vessels and the vena cava, amputation and loss of significant portions of foregut post-surgery. Five-year progression-free survival rate is 50% in patients with a primary or recurrent desmoid who are not treated initially with surgery, radiotherapy (RT), or systemic therapy. Massive and inoperable desmoids have become an important cause of morbidity and mortality in FAP patients post-colectomy. Desmoid tumor associated with FAP has the least favorable prognosis due to high recurrence rate. Whereas, non-FAP-associated intra-abdominal fibromatosis has a low recurrence rate after surgical resection.

Diagnostic study of choice

Definitive diagnosis of a desmoid tumor can only be established by histological examination of a biopsy specimen. Electron microscopy can be done which shows spindle cells of desmoids appearing as myofibroblasts.

History and Symptoms

Depending on size, location and spread of tumor, patients may remain asymptomatic for long time period or may show symptoms like painless/painful lump appearning as a swelling in affected area, nausea, vomiting, anxiety, loss of sleep, pain or soreness caused by compressed nerves or muscles, limping and decreased movement or range of motion or other difficulty using the legs, feet, arms or hands or other affected part of the body. Intra-abdominal desmoids can present with abdominal pain, abdominal mass, constipation due to intestinal obstruction, bowel ischemia, functional deterioration in an ileoanal anastomosis (especially in post-colectomy FAP patient), bloating, rupture of intestine, compression of the kidneys or ureters, rectal bleeding, and compression of critical blood vessels such as the mesenteric vessels and the vena cava.

Physical Examination

Common physical examination findings of desmoid tumor include lump or swelling in the affected area, abdominal tenderness, pallor, and elevated temperature.

Laboratory findings

Immunohistochemical staining of spindle cells of desmoid tumors are positive for nuclear beta-catenin, vimentin, alpha smooth muscle actin, muscle actin and negative for desmin, cytokeratins, and S-100. Antibodies like smooth muscle actin, desmin and KIT may be helpful in distinguishing desmoid tumors from other tumors. In addition, APC germline mutations may be performed in patients with sporadic desmoid tumors with no clinical or famililal signs of FAP but having a family history of colorectal carcinoma in at least one family member.

CT

CT scan can be done in order to define the relationship of desmoid tumor to adjacent structures, assess resectibility and find out the need for treatment. On CT scan, desmoid tumor is characterized by a homogeneously or focally hyperattenuating well circumscribed mass which may demonstrate enhancement following administration of intravenous contrast.

MRI

MRI is preferred over CT, especially for truncal and extremity desmoid tumors. On MRI, desmoid tumor has variable characteristics depending on their cellularity and fibrous content with loss of signal following fat saturation. They appear isointense/hypointense on T1 and hyperintense on T2.

Other Imaging Findings

Other imaging studies for the diagnosis of desmoid tumor include ultrasonography, which demonstrates tumor size and location. On ultrasonography, desmoid tumors appear as well-defined lesions with variable echogenicity, and ill defined/irregular borders. On color Doppler, desmoids appear like muscles, may be lobulated and may show vascularity. Plain radiographs and angiography may be of diagnostic help in some cases.

Medical Therapy

Wait and watch strategy is applied to desmoid tumors which are asymptomatic, unresectable, non-life threatening, not causing any significant impairment, and resectable tumors with increased morbidity associated with surgery.Different drugs including chemotherapeutic agents, NSAIDs, anti-hormonal agents and tyrosine kinase inhibitors can be used to shrink or stabilize the tumor size and to improve the symptoms. Radiation therapy and tumor ablation with heat, cold, microwave and/or high-frequency ultrasound waves can also be of therapeutic use as required.

Surgery

The goals of surgery include tumor removal and functional restoration at the tumor site. Standard surgical goal is wide local excision with a grossly negative microscopic margin followed by reconstruction of defect with skin graft, rotational muscle flap or free muscle flap. Abdominal wall resection may be required to close the defect and minimize the risk of hernias. Incomplete tumor removal or involved excision margins may lead to local recurrence in 25% to 40% of patients. Hence, because of high recurrence risk post-surgery, imaging of the tumor site with ultrasound or MRI scans may be recommended to closely monitor patient’s health on follow up visits after surgery.

Future or investigational therapies

Angiogenesis inhibitors and different chemotherapy agents are under investigation nowadays which might prove fruitful for treatment of desmoid tumors in future. Furthermore, mutational analysis for beta-catenin gene may soon be used to predict the recurrence risk and to aid in designing the individual therapies.

Reference

Template:WikiDoc Sources

Historical Perspective

Historical Perspective


Template:Desmoid Tumor

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

Muller first coined the term desmoid in 1858 to describe tumors with tendon-like consistency. It origniates from a Greek word “desmos” meaning band or tendon-like. Gradner first described the development of desmoid tumors in FAP patients in 1951.

Historical Perspective

Reference

Template:WikiDoc Sources

Classification

Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]Faizan Sheraz, M.D. [3]

Overview

Based on the etiology, desmoid tumors may be classified as abdominal, intra-abdominal, extra-abdominal, multiple familial, associated with Gardner syndrome and associated with Turcot syndrome.

Classification

Classification Features

Abdominal

Extraabdominal

Desmoid tumors found in other body regions most often including:

Intraabdominal

Multiple Familial

Gardner Syndrome Associated

Turcot Syndrome Associated

Reference

  1. ↑ Economou, Athanasios; Pitta, Xanthi; Andreadis, Efstathios; Papapavlou, Leonidas; Chrissidis, Thomas (2011). “Desmoid tumor of the abdominal wall: a case report”. Journal of Medical Case Reports. 5 (1): 326. doi:10.1186/1752-1947-5-326. ISSN 1752-1947.
  2. ↑ Colombo C, Foo WC, Whiting D, Young ED, Lusby K, Pollock RE; et al. (2012). “FAP-related desmoid tumors: a series of 44 patients evaluated in a cancer referral center”. Histol Histopathol. 27 (5): 641–9. doi:10.14670/HH-27.641. PMID 22419028.
  3. ↑ Neuman HB, Brogi E, Ebrahim A, Brennan MF, Van Zee KJ (2008). “Desmoid tumors (fibromatoses) of the breast: a 25-year experience”. Ann Surg Oncol. 15 (1): 274–80. doi:10.1245/s10434-007-9580-8. PMID 17896146.

Template:WikiDoc Sources

Pathophysiology

Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]Faizan Sheraz, M.D. [3]

Overview

Desmoid tumors arises from monoclonal proliferation of well-differentiated fibroblasts. They appear as firm overgrowths of fibrous tissue with marked cellularity and aggressive local infiltration. The exact etiology remains uncertain, however, they are seem to be associated with antecedent surgical or accidental trauma at the tumor site and various mutations at the molecular level including beta-catenin gene, CTNNB1 or APC gene involved in Wnt/beta-cateninsignaling pathway. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutation. Immunohistochemistry shows an elevated beta-catenin protein level in all tumors, regardless of the mutational status. Associated conditions include Turcot syndrome, Gardner syndrome, Familial adenomatous polyposis and estrogen therapy. Desmoid tumors arise from connective tissue, fasciae and aponeuroses and appear as dense scar tissuewith most common sites of abdominal involvement being abdominal wall, root of the mesentery and retroperitoneum. Histologically, desmoid tumors consist of linearly arranged elongated fibroblasts and myofibroblas surrounded and separated from each other by collagen. These tumors show a tendency to evolve over time.


Pathophysiology

Genetics

Normal function of CTNNB1 and APC genes

Mutations in adults

 
 
 
Binding of an activating external/Wnt ligand to a receptor complex (a member of a seven-transmembrane-domain receptor of the frizzled family) and a LRP5/6 co-receptor(LDL-receptor-related protein family)[22][9]
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Canonical Wnt (Wingless) signaling pathway activation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Inhibition of kinase activity of APC complex (which tightly binds and regulates Beta-catenin levels by its phosphorylation in proteasome at serine and threonine sites encoded in exon 3, leading to ubiquitin-mediated protein degradation)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Elevated Beta-catenin levels in cytoplasm (due to non-phosphorylation)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Beta-catenin translocates to nucleus
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
B-catenin together with TCF/LEF transcription factors, acts to activate transcription of genes such as CYCD1 and MYC
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Promotion of proliferation and enhanced survival
 
 
 

Additional mutations in pediatric desmoids

Immunohistochemistry

Associated Diseases

Gross Pathology

Location

Frequent locations in the abdomen are:

Patient presenting a large desmoid tumor on the posterior thoracic wall.Source: Abrao FC. et al, Thoracic Surgery Department, Instituto do Corao InCor, Hospital das Clnicas da Faculdade de Medicina da Universidade de Sã Paulo HCFMUSP, Sã Paulo, Brazil.
Rapid progression of a pregnancy-associated intra-abdominal desmoid tumor in the post-partum period: A case report. (A) Intra-operative view of intra-abdominal desmoid tumor with adherent portion of small bowel. (B) Desmoid tumor after surgical resection.Source: Hanna D. et al, University of Maryland School of Medicine, 655 W. Baltimore Street, Baltimore, MD 21201, United States
Breast Desmoid Tumor after Ductal Carcinoma Treatment: Salvaging a DIEP Flap Reconstruction. Chest wall defect after desmoid tumor resection (A) and resected desmoid tumor (B). Source: Zavlin D. et al, *Institute for Reconstructive Surgery, Houston Methodist Hospital, Weill Cornell Medicine, Houston, Tex.; and †College of Medicine, Texas A&M University College of Medicine, Houston, Tex.
Extra-Abdominal Fibromatosis (Desmoid Tumor): A Rare Tumor of the Lower Extremity Arising from the Popliteal Fossa. Gross cross-sectional view of pathologyic resected specimen. The gross lesion is poorly circumscribed and usually measures between 5 and 15 cm. On cut section, it is hard and tan-white. The lesion is poorly circumscribed and is centered in skeletal muscle and the adjacent fascia. There often are infiltration and obliteration of adjacent structures. Source: Ali Kaygain M. et al, Department of Cardiovascular Surgery, Erzurum Regional Training and Research Hospital, 25020 Erzurum, Turkey

Microscopic Pathology

On microscopic histopathological analysis, the characteristic findings of desmoid tumors inclde:[45]

Stages of evolution of desmoid tumors

Vandevenne et al described three stages of evolution of desmoid tumors as follows:

    Stages of evolution of desmoid tumors
    Stage Histological features
    First stage
    Second stage
    Third stage
    • Increased fibrous composition
    • Decreased cellularity
    • Decreased water content
    Histological features of desmoid tumors in the proximal part of the left thigh of a 29-year-old woman (arrows) (a–d). (a) Desmoid tumors invaded into the skeletal striated muscle aggressively. Degeneration of skeletal muscle cells could be seen (HE × 100). (b) Budding-like protrusion of the lesions invading into the muscles could be seen on the juncture of tumors and muscles (HE × 40). (c) Isolated small lesions in muscles were found away from the main part of the tumor (HE × 40). (d) Microscopically, desmoid tumors were poorly circumscribed on tumor-ligament boundary (HE × 40).Source: Wang YF. et al, Musculoskeletal Tumor Center, Peking University People’s Hospital, Beijing, 100044 P.R. China
    Histological features of postoperative recurrent desmoid tumors in the right forearm of a 15-year-old man (arrows) (a–d). (a) Lesions with adipose tissue involvement (HE × 40). (b) Desmoid tumors around vessels could not invade into the vessel wall to form tumor thrombus (HE × 40). (c) Desmoid tumors invaded into the connective tissue and perineurium around nerve tissue (HE × 40). (d) Desmoid tumors with bone involvement penetrated into the periosteum and cortical bone and invaded into the bone marrow cavity along the bone trabecula (HE × 40).Source: Wang YF. et al, Musculoskeletal Tumor Center, Peking University People’s Hospital, Beijing, 100044 P.R. China
    Immunological features of desmoid tumors in the middle section of the left thigh of a 35-year-old woman with femur involvement (a–d). (a) β-catenin staining of desmoid tumors (EnVision × 200). (b) Vimentin staining of desmoid tumors (EnVision × 200). (c) Desmin staining of desmoid tumors (EnVision × 200). (d) Ki-67 staining of desmoid tumors (EnVision × 200).Source: Wang YF. et al, Musculoskeletal Tumor Center, Peking University People’s Hospital, Beijing, 100044 P.R. China
    Extra-Abdominal Fibromatosis (Desmoid Tumor): A Rare Tumor of the Lower Extremity Arising from the Popliteal Fossa. Desmoid fibromatosis showing fascicular arrangement of bland fibroblasts, which are interrupted by thin-walled, compressed vascular channels resulting in an appearance akin to a hypocellular scar. Note entrapped muscle fibers. No mitotic activity or nuclear pleomorphism is present (H&E, original magnification, 40x). Source: Ali Kaygain M. et al, Department of Cardiovascular Surgery, Erzurum Regional Training and Research Hospital, 25020 Erzurum, Turkey

    Reference

    1. ↑ Leal RF, Silva PV, Ayrizono Mde L, Fagundes JJ, Amstalden EM, Coy CS (2010). “Desmoid tumor in patients with familial adenomatous polyposis”. Arq Gastroenterol. 47 (4): 373–8. PMID 21225148.
    2. ↑ Desmoid tumor. Dr Tim Luijkx and Radswiki et al. Radiopedia 2015 http://radiopaedia.org/articles/aggressive-fibromatosis. Accessed on January 20, 2015
    3. ↑ De Wever I, Dal Cin P, Fletcher CD, Mandahl N, Mertens F, Mitelman F; et al. (2000). “Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP Study Group. CHromosomes And Morphology”. Mod Pathol. 13 (10): 1080–5. doi:10.1038/modpathol.3880200. PMID 11048801.
    4. ↑ Middleton SB, Frayling IM, Phillips RK (2000). “Desmoids in familial adenomatous polyposis are monoclonal proliferations”. Br J Cancer. 82 (4): 827–32. doi:10.1054/bjoc.1999.1007. PMC 2374411. PMID 10732754.
    5. ↑ 5.0 5.1 Li C, Bapat B, Alman BA (1998). “Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor)”. Am J Pathol. 153 (3): 709–14. PMC 1853030. PMID 9736021.
    6. ↑ Escobar C, Munker R, Thomas JO, Li BD, Burton GV (2012). “Update on desmoid tumors”. Ann Oncol. 23 (3): 562–9. doi:10.1093/annonc/mdr386. PMID 21859899.
    7. ↑ 7.0 7.1 Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A; et al. (1998). “Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours”. Br J Cancer. 78 (5): 582–7. PMC 2063069. PMID 9744495.
    8. ↑ 8.0 8.1 8.2 Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P; et al. (1999). “Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)”. Oncogene. 18 (47): 6615–20. doi:10.1038/sj.onc.1203041. PMID 10597266.
    9. ↑ 9.0 9.1 Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC (2000). “An LDL-receptor-related protein mediates Wnt signalling in mice”. Nature. 407 (6803): 535–8. doi:10.1038/35035124. PMID 11029008.
    10. ↑ 10.0 10.1 Cheon SS, Cheah AY, Turley S, Nadesan P, Poon R, Clevers H; et al. (2002). “beta-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds”. Proc Natl Acad Sci U S A. 99 (10): 6973–8. doi:10.1073/pnas.102657399. PMC 124513. PMID 11983872.
    11. ↑ Barker N (2008). “The canonical Wnt/beta-catenin signalling pathway”. Methods Mol Biol. 468: 5–15. doi:10.1007/978-1-59745-249-6_1. PMID 19099242.
    12. ↑ 12.0 12.1 Lazar AJ, Hajibashi S, Lev D (2009). “Desmoid tumor: from surgical extirpation to molecular dissection”. Curr Opin Oncol. 21 (4): 352–9. doi:10.1097/CCO.0b013e32832c9502. PMID 19436199.
    13. ↑ Aitken SJ, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R; et al. (2015). “Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses”. Virchows Arch. 467 (2): 203–10. doi:10.1007/s00428-015-1765-0. PMID 25838078.
    14. ↑ Heinrich MC, McArthur GA, Demetri GD, Joensuu H, Bono P, Herrmann R; et al. (2006). “Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor)”. J Clin Oncol. 24 (7): 1195–203. doi:10.1200/JCO.2005.04.0717. PMID 16505440.
    15. ↑ Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM; et al. (2002). “Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway”. Hum Pathol. 33 (1): 39–46. PMID 11823972.
    16. ↑ Signoroni S, Frattini M, Negri T, Pastore E, Tamborini E, Casieri P; et al. (2007). “Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis”. Clin Cancer Res. 13 (17): 5034–40. doi:10.1158/1078-0432.CCR-07-0336. PMID 17785554.
    17. ↑ Cheon S, Poon R, Yu C, Khoury M, Shenker R, Fish J; et al. (2005). “Prolonged beta-catenin stabilization and tcf-dependent transcriptional activation in hyperplastic cutaneous wounds”. Lab Invest. 85 (3): 416–25. doi:10.1038/labinvest.3700237. PMID 15654359.
    18. ↑ Merchant NB, Lewis JJ, Woodruff JM, Leung DH, Brennan MF (1999). “Extremity and trunk desmoid tumors: a multifactorial analysis of outcome”. Cancer. 86 (10): 2045–52. PMID 10570430.
    19. ↑ Kim HS, Kim J, Nam KH, Kim WH (2016). “Clinical significance of midkine expression in sporadic desmoid tumors”. Oncol Lett. 11 (3): 1677–1684. doi:10.3892/ol.2016.4129. PMC 4774436. PMID 26998061.
    20. ↑ Kotiligam D, Lazar AJ, Pollock RE, Lev D (2008). “Desmoid tumor: a disease opportune for molecular insights”. Histol Histopathol. 23 (1): 117–26. doi:10.14670/HH-23.117. PMID 17952864.
    21. ↑ Crago AM, Chmielecki J, Rosenberg M, O’Connor R, Byrne C, Wilder FG; et al. (2015). “Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis”. Genes Chromosomes Cancer. 54 (10): 606–15. doi:10.1002/gcc.22272. PMC 4548882. PMID 26171757.
    22. ↑ Bhanot P, Brink M, Samos CH, Hsieh JC, Wang Y, Macke JP; et al. (1996). “A new member of the frizzled family from Drosophila functions as a Wingless receptor”. Nature. 382 (6588): 225–30. doi:10.1038/382225a0. PMID 8717036.
    23. ↑ Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ (1997). “Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors)”. Am J Pathol. 151 (2): 329–34. PMC 1857985. PMID 9250146.
    24. ↑ Bertario L, Russo A, Sala P, Eboli M, Giarola M, D’amico F; et al. (2001). “Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis”. Int J Cancer. 95 (2): 102–7. PMID 11241320.
    25. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). “Desmoid tumour biology in patients with familial adenomatous polyposis coli”. Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
    26. ↑ Nieuwenhuis MH, Vasen HF (2007). “Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature”. Crit Rev Oncol Hematol. 61 (2): 153–61. doi:10.1016/j.critrevonc.2006.07.004. PMID 17064931.
    27. ↑ Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK (2011). “Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis”. Colorectal Dis. 13 (11): 1222–9. doi:10.1111/j.1463-1318.2010.02345.x. PMID 20528895.
    28. ↑ Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T; et al. (1995). “Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444”. Hum Mol Genet. 4 (3): 337–40. PMID 7795585.
    29. ↑ Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P; et al. (2003). “Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis”. J Clin Oncol. 21 (9): 1698–707. doi:10.1200/JCO.2003.09.118. PMID 12721244.
    30. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). “Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families”. Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
    31. ↑ Wallis YL, Morton DG, McKeown CM, Macdonald F (1999). “Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition”. J Med Genet. 36 (1): 14–20. PMC 1762945. PMID 9950360.
    32. ↑ Church J, Xhaja X, LaGuardia L, O’Malley M, Burke C, Kalady M (2015). “Desmoids and genotype in familial adenomatous polyposis”. Dis Colon Rectum. 58 (4): 444–8. doi:10.1097/DCR.0000000000000316. PMID 25751801.
    33. ↑ Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA; et al. (1999). “Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene”. Hum Hered. 49 (2): 97–102. doi:10.1159/000022852. PMID 10077730.
    34. ↑ Hong H, Nadesan P, Poon R, Alman BA (2011). “Testosterone regulates cell proliferation in aggressive fibromatosis (desmoid tumour)”. Br J Cancer. 104 (9): 1452–8. doi:10.1038/bjc.2011.107. PMC 3101926. PMID 21468052.
    35. ↑ 35.0 35.1 Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E; et al. (2008). “Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors”. Am J Pathol. 173 (5): 1518–27. doi:10.2353/ajpath.2008.080475. PMC 2570141. PMID 18832571.
    36. ↑ 36.0 36.1 Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W; et al. (2013). “β-Catenin mutation status and outcomes in sporadic desmoid tumors”. Oncologist. 18 (9): 1043–9. doi:10.1634/theoncologist.2012-0449. PMC 3780636. PMID 23960186.
    37. ↑ Fletcher JA, Naeem R, Xiao S, Corson JM (1995). “Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence”. Cancer Genet Cytogenet. 79 (2): 139–43. PMID 7889507.
    38. ↑ Kouho H, Aoki T, Hisaoka M, Hashimoto H (1997). “Clinicopathological and interphase cytogenetic analysis of desmoid tumours”. Histopathology. 31 (4): 336–41. PMID 9363449.
    39. ↑ Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S; et al. (1999). “Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone”. Am J Pathol. 154 (3): 729–33. doi:10.1016/S0002-9440(10)65319-9. PMC 1866419. PMID 10079250.
    40. ↑ Qi H, Dal Cin P, Hernández JM, Garcia JL, Sciot R, Fletcher C; et al. (1996). “Trisomies 8 and 20 in desmoid tumors”. Cancer Genet Cytogenet. 92 (2): 147–9. PMID 8976373.
    41. ↑ Mertens F, Willén H, Rydholm A, Brosjö O, Carlén B, Mitelman F; et al. (1995). “Trisomy 20 is a primary chromosome aberration in desmoid tumors”. Int J Cancer. 63 (4): 527–9. PMID 7591262.
    42. ↑ Meazza C, Belfiore A, Busico A, Settanni G, Paielli N, Cesana L; et al. (2016). “AKT1 and BRAF mutations in pediatric aggressive fibromatosis”. Cancer Med. 5 (6): 1204–13. doi:10.1002/cam4.669. PMC 4924379. PMID 27062580.
    43. ↑ Tanaka K, Toiyama Y, Okugawa Y, Hiro J, Kawamoto A, Inoue Y; et al. (2012). “Cytoreductive strategy for multiple intra-abdominal and abdominal wall desmoid tumors in familial adenomatous polyposis: report of three cases”. Clin J Gastroenterol. 5 (5): 361–6. doi:10.1007/s12328-012-0330-5. PMID 26181076.
    44. ↑ Ferenc T, Sygut J, Kopczyński J, Mayer M, Latos-Bieleńska A, Dziki A; et al. (2006). “Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background”. Pol J Pathol. 57 (1): 5–15. PMID 16739877.
    45. ↑ Economou, Athanasios; Pitta, Xanthi; Andreadis, Efstathios; Papapavlou, Leonidas; Chrissidis, Thomas (2011). “Desmoid tumor of the abdominal wall: a case report”. Journal of Medical Case Reports. 5 (1): 326. doi:10.1186/1752-1947-5-326. ISSN 1752-1947.

    Template:WikiDoc Sources

    Causes

    Causes

    Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

    Overview

    The exact etiology of desmoid tumors is unknown. However, Wnt/beta-catenin signaling pathway, APC mutations, CTNNB1 (beta-catenin) gene mutations, sporadic tumors and trisomy 8 and trisomy 20 seem to play a role in development of sporadic desmoids in adults. Familial desmoids in FAP patients are associated with germline APC mutations. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutations.

    Causes

    Type of desmoid Associated mutations
    Sporadic desmoids Occur due to somatic mutation in one copy of any of the following genes: Adults
    Familial desmoids/Hereditary desmoid disease Associated with FAP which has inherited mutation in one copy of APC gene
    Pediatric desmoids[36] In addition to CTNNB1 mutation, pediatric desmoids have following mutations too: Children

    Reference

    1. ↑ De Wever I, Dal Cin P, Fletcher CD, Mandahl N, Mertens F, Mitelman F; et al. (2000). “Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP Study Group. CHromosomes And Morphology”. Mod Pathol. 13 (10): 1080–5. doi:10.1038/modpathol.3880200. PMID 11048801.
    2. ↑ Middleton SB, Frayling IM, Phillips RK (2000). “Desmoids in familial adenomatous polyposis are monoclonal proliferations”. Br J Cancer. 82 (4): 827–32. doi:10.1054/bjoc.1999.1007. PMC 2374411. PMID 10732754.
    3. ↑ 3.0 3.1 Li C, Bapat B, Alman BA (1998). “Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor)”. Am J Pathol. 153 (3): 709–14. PMC 1853030. PMID 9736021.
    4. ↑ Escobar C, Munker R, Thomas JO, Li BD, Burton GV (2012). “Update on desmoid tumors”. Ann Oncol. 23 (3): 562–9. doi:10.1093/annonc/mdr386. PMID 21859899.
    5. ↑ 5.0 5.1 Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A; et al. (1998). “Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours”. Br J Cancer. 78 (5): 582–7. PMC 2063069. PMID 9744495.
    6. ↑ Barker N (2008). “The canonical Wnt/beta-catenin signalling pathway”. Methods Mol Biol. 468: 5–15. doi:10.1007/978-1-59745-249-6_1. PMID 19099242.
    7. ↑ Lazar AJ, Hajibashi S, Lev D (2009). “Desmoid tumor: from surgical extirpation to molecular dissection”. Curr Opin Oncol. 21 (4): 352–9. doi:10.1097/CCO.0b013e32832c9502. PMID 19436199.
    8. ↑ Aitken SJ, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R; et al. (2015). “Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses”. Virchows Arch. 467 (2): 203–10. doi:10.1007/s00428-015-1765-0. PMID 25838078.
    9. ↑ Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P; et al. (1999). “Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)”. Oncogene. 18 (47): 6615–20. doi:10.1038/sj.onc.1203041. PMID 10597266.
    10. ↑ Heinrich MC, McArthur GA, Demetri GD, Joensuu H, Bono P, Herrmann R; et al. (2006). “Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor)”. J Clin Oncol. 24 (7): 1195–203. doi:10.1200/JCO.2005.04.0717. PMID 16505440.
    11. ↑ Cheon SS, Cheah AY, Turley S, Nadesan P, Poon R, Clevers H; et al. (2002). “beta-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds”. Proc Natl Acad Sci U S A. 99 (10): 6973–8. doi:10.1073/pnas.102657399. PMC 124513. PMID 11983872.
    12. ↑ Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM; et al. (2002). “Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway”. Hum Pathol. 33 (1): 39–46. PMID 11823972.
    13. ↑ Signoroni S, Frattini M, Negri T, Pastore E, Tamborini E, Casieri P; et al. (2007). “Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis”. Clin Cancer Res. 13 (17): 5034–40. doi:10.1158/1078-0432.CCR-07-0336. PMID 17785554.
    14. ↑ Cheon S, Poon R, Yu C, Khoury M, Shenker R, Fish J; et al. (2005). “Prolonged beta-catenin stabilization and tcf-dependent transcriptional activation in hyperplastic cutaneous wounds”. Lab Invest. 85 (3): 416–25. doi:10.1038/labinvest.3700237. PMID 15654359.
    15. ↑ Merchant NB, Lewis JJ, Woodruff JM, Leung DH, Brennan MF (1999). “Extremity and trunk desmoid tumors: a multifactorial analysis of outcome”. Cancer. 86 (10): 2045–52. PMID 10570430.
    16. ↑ Kim HS, Kim J, Nam KH, Kim WH (2016). “Clinical significance of midkine expression in sporadic desmoid tumors”. Oncol Lett. 11 (3): 1677–1684. doi:10.3892/ol.2016.4129. PMC 4774436. PMID 26998061.
    17. ↑ Kotiligam D, Lazar AJ, Pollock RE, Lev D (2008). “Desmoid tumor: a disease opportune for molecular insights”. Histol Histopathol. 23 (1): 117–26. doi:10.14670/HH-23.117. PMID 17952864.
    18. ↑ Crago AM, Chmielecki J, Rosenberg M, O’Connor R, Byrne C, Wilder FG; et al. (2015). “Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis”. Genes Chromosomes Cancer. 54 (10): 606–15. doi:10.1002/gcc.22272. PMC 4548882. PMID 26171757.
    19. ↑ 19.0 19.1 Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E; et al. (2008). “Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors”. Am J Pathol. 173 (5): 1518–27. doi:10.2353/ajpath.2008.080475. PMC 2570141. PMID 18832571.
    20. ↑ 20.0 20.1 Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W; et al. (2013). “β-Catenin mutation status and outcomes in sporadic desmoid tumors”. Oncologist. 18 (9): 1043–9. doi:10.1634/theoncologist.2012-0449. PMC 3780636. PMID 23960186.
    21. ↑ Bertario L, Russo A, Sala P, Eboli M, Giarola M, D’amico F; et al. (2001). “Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis”. Int J Cancer. 95 (2): 102–7. PMID 11241320.
    22. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). “Desmoid tumour biology in patients with familial adenomatous polyposis coli”. Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
    23. ↑ Nieuwenhuis MH, Vasen HF (2007). “Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature”. Crit Rev Oncol Hematol. 61 (2): 153–61. doi:10.1016/j.critrevonc.2006.07.004. PMID 17064931.
    24. ↑ Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK (2011). “Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis”. Colorectal Dis. 13 (11): 1222–9. doi:10.1111/j.1463-1318.2010.02345.x. PMID 20528895.
    25. ↑ Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T; et al. (1995). “Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444”. Hum Mol Genet. 4 (3): 337–40. PMID 7795585.
    26. ↑ Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P; et al. (2003). “Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis”. J Clin Oncol. 21 (9): 1698–707. doi:10.1200/JCO.2003.09.118. PMID 12721244.
    27. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). “Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families”. Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
    28. ↑ Wallis YL, Morton DG, McKeown CM, Macdonald F (1999). “Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition”. J Med Genet. 36 (1): 14–20. PMC 1762945. PMID 9950360.
    29. ↑ Church J, Xhaja X, LaGuardia L, O’Malley M, Burke C, Kalady M (2015). “Desmoids and genotype in familial adenomatous polyposis”. Dis Colon Rectum. 58 (4): 444–8. doi:10.1097/DCR.0000000000000316. PMID 25751801.
    30. ↑ Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA; et al. (1999). “Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene”. Hum Hered. 49 (2): 97–102. doi:10.1159/000022852. PMID 10077730.
    31. ↑ Fletcher JA, Naeem R, Xiao S, Corson JM (1995). “Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence”. Cancer Genet Cytogenet. 79 (2): 139–43. PMID 7889507.
    32. ↑ Kouho H, Aoki T, Hisaoka M, Hashimoto H (1997). “Clinicopathological and interphase cytogenetic analysis of desmoid tumours”. Histopathology. 31 (4): 336–41. PMID 9363449.
    33. ↑ Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S; et al. (1999). “Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone”. Am J Pathol. 154 (3): 729–33. doi:10.1016/S0002-9440(10)65319-9. PMC 1866419. PMID 10079250.
    34. ↑ Qi H, Dal Cin P, Hernández JM, Garcia JL, Sciot R, Fletcher C; et al. (1996). “Trisomies 8 and 20 in desmoid tumors”. Cancer Genet Cytogenet. 92 (2): 147–9. PMID 8976373.
    35. ↑ Mertens F, Willén H, Rydholm A, Brosjö O, Carlén B, Mitelman F; et al. (1995). “Trisomy 20 is a primary chromosome aberration in desmoid tumors”. Int J Cancer. 63 (4): 527–9. PMID 7591262.
    36. ↑ Meazza C, Belfiore A, Busico A, Settanni G, Paielli N, Cesana L; et al. (2016). “AKT1 and BRAF mutations in pediatric aggressive fibromatosis”. Cancer Med. 5 (6): 1204–13. doi:10.1002/cam4.669. PMC 4924379. PMID 27062580.

    Template:WikiDoc Sources

    Differentiating desmoid tumor from other Diseases

    Differentiating desmoid tumor from other Diseases

    Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

    Overview

    Extra-abdominal desmoid tumor must be differentiated from fibrosarcoma, low-grade fibromyxoid sarcoma and Gardner fibroma. Intra-abdominal desmoid tumor must be differentiated from gastrointestinal stromal tumor (GIST), benign fibrous tumor/solitary fibrous tumor (SFT), inflammatory myofibroblastic tumor (IMT), sclerosing mesenteritis and retroperitoneal fibrosis. Furthermore, generally all desmoid tumors must be differentiated from acute hematoma, lymphoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, nodular fasciitis, hypertrophic scars,keloids and primitive neuroectodermal tumor.

    Differentiating Desmoid tumor from other Diseases

    Differentiating desmoid tumor from other diseases
    Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Benign/Malignant Risk factors Common site of involvement Clinical manifestations Other associated features
    Desmoid tumor Sporadic desmoids are associated with following mutations:

    Familial desmoids/Hereditary desmoid disease is associated with:

    Pediatric desmoids have following additional mutations involving:

    		Histologically, desmoid tumors consist of: Positive for:

    Negative for:

    		Desmoids may be associated with following:
    Fibrosarcoma/Fibroblastic sarcoma Strongly positive for:

    Negative for:

    		Primary bone malignancy involving end of long bones:
    Low-grade fibromyxoid sarcoma[4][5][9][10][11][12][13][14] Translocation:
    • t(7;18;16) or
    • t(7;16) (q34:p11)

    Fusion gene:

    		Positive for:
    • MUC4 (highly specific and sensitive)
    • Vimentin

    Occasionally positive for:

    Negative for:

    		_
      		Majority occurring in subfascial location and rarely involving subcutis or dermis in following sites:
      • Painless, slow-growing well-circumscribed mass
      • Average size-5cm (ranges from 1-20cm)
      		 _
      Benign fibrous tumor/Solitary fibrous tumor (SFT) [15][16][17][18][19][20][21][22][23] Intra-chromosomal inversion at:

      TERT promoter mutations responsible for:

      		Positive for:

      In few cases, positive for:

      Negative for:

      		_ Paraneoplastic syndromes associated with SFTs include:
      Gardner fibroma/Gardner-associated fibroma (GAF)[24][25][6][26] Positive for: Any part of body:
      Gastrointestinal stromal tumor (GIST)[27][28][29][30][31] Activating mutation of:

      Pediatric GISTs (SDH–deficient) have mutations of one of the:

      GIST as a part of Carney triad has following mutation:

      Wild-type GISTs have following three molecular subtypes:

      		GIST cells basically arise from interstitial cells of Cajal (ICCs) and appear as follows on histology: Positive for:

      Consistently negative for:

      		Can involve any part of GIT: Depending on tumor size and localization in GIT: _
      Inflammatory myofibroblastic tumor (IMT)[32][33][34][35][36][37][38][39][33][36][7] Unknown underlying etiology, may be due to inflammatory reaction to:

      Mutations such as:

      		Positive for:

      Negative for:

      		Also known as:
      Sclerosing mesenteritis[40][41][42][43][44][45][46][47][48][49][50][51][52]

      [53][54][55][56][57][58][59][60]

      		Unknown exact etiology: Varying components of: _ Nomenclature used in the medical literature for idiopathic primary inflammatory and fibrotic processes of the mesentery is as follows:
      Retroperitoneal fibrosis[61][62][63][64][65][66][67][68][69][70][71][72][73]

      Idiopathic (70%) [Ormond’s disease] is an immune-mediated disease caused by:

      Secondary to:

      		Fibro-inflammatory disease histologically hallmarked by fibrous tissue and chronic inflammation: Retroperitoneal fibrosis is also known as:
      Lymphoma Diffuse large B cell lymphoma (DLBCL):

      Extranodal marginal B cell lymphoma:

      Follicular lymphoma:

      Burkitt lymphoma:

      		Positive for:

      Negative for:

      		Anywhere in body WHO classification of lymphoma:
      Rhabdomyosarcoma (RMS)[74][75][76][77][78][79][80][81][82][83] Histologic classification: Positive for:

      Maybe positive for:

      		Histology of RMS similar to that of other childhood small round blue cell tumors involving bone and soft tissue such as:
      Liposarcoma[84][85][86][87][88][89][90][91][92][93] Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:

      Myxoid liposarcoma is associated with:

      Pleomorphic liposarcoma is associated with:

      		Well-differentiated liposarcoma:

      De-differentiated liposarcoma:

      		Atypical lipomatous tumor/well differentiated liposarcoma is positive for: _
      Leiomyosarcoma[94][95][96][97][98][99][100][101][102] Positive for:

      Negative for:

      		_
      Neurofibroma[103][104][105][106][107][108][109][106][110][111][112] Can be sporadic or as a part of Neurofibromatosis 1 and 2 Positive for:

      Negative for:

      Nodular fasciitis[113][114][115][116][117][118][119][120][121][122] Positive for:

      Negative for:

      		Also known as:
      Hypertrophic scars _

      Adverse wound healing factors at the injury site such as:

      		Hypertrophic scars can be classified as:
      Keloids[123][124][125][126] _

      Adverse wound healing factors at the injury site such as:

      Keloids may be associated with rare inherited syndromes such as:

      Keloids can be prevented by using:

      Keloids can be classified as:

      Primitive neuroectodermal tumor (PNET)[127][128][129] Positive for:

      Negative for:

      		Also known as:

      WHO classified PNET into 3 subtypes:

      Peripheral PNET (pPNET) is now thought to be virtually identical to Ewing sarcoma

      Reference

      1. ↑ Economou, Athanasios; Pitta, Xanthi; Andreadis, Efstathios; Papapavlou, Leonidas; Chrissidis, Thomas (2011). “Desmoid tumor of the abdominal wall: a case report”. Journal of Medical Case Reports. 5 (1): 326. doi:10.1186/1752-1947-5-326. ISSN 1752-1947.
      2. ↑ Kasper B, Ströbel P, Hohenberger P (2011). “Desmoid tumors: clinical features and treatment options for advanced disease”. Oncologist. 16 (5): 682–93. doi:10.1634/theoncologist.2010-0281. PMC 3228186. PMID 21478276.
      3. ↑ Carlson JW, Fletcher CD (2007). “Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature”. Histopathology. 51 (4): 509–14. doi:10.1111/j.1365-2559.2007.02794.x. PMID 17711447.
      4. ↑ 4.0 4.1 Wu X, Petrovic V, Torode IP, Chow CW (2009). “Low grade fibromyxoid sarcoma: problems in the diagnosis and management of a malignant tumour with bland histological appearance”. Pathology. 41 (2): 155–60. doi:10.1080/00313020802579276. PMID 19152188.
      5. ↑ 5.0 5.1 Bartuma H, Möller E, Collin A, Domanski HA, Von Steyern FV, Mandahl N; et al. (2010). “Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma”. Cancer Genet Cytogenet. 199 (2): 143–6. doi:10.1016/j.cancergencyto.2010.02.011. PMID 20471519.
      6. ↑ 6.0 6.1 Wehrli BM, Weiss SW, Yandow S, Coffin CM (2001). “Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis”. Am J Surg Pathol. 25 (5): 645–51. PMID 11342777.
      7. ↑ 7.0 7.1 Coffin CM, Hornick JL, Fletcher CD (2007). “Inflammatory myofibroblastic tumor: comparison of clinicopathologic, histologic, and immunohistochemical features including ALK expression in atypical and aggressive cases”. Am J Surg Pathol. 31 (4): 509–20. doi:10.1097/01.pas.0000213393.57322.c7. PMID 17414097.
      8. ↑ Swartz RD (2009). “Idiopathic retroperitoneal fibrosis: a review of the pathogenesis and approaches to treatment”. Am J Kidney Dis. 54 (3): 546–53. doi:10.1053/j.ajkd.2009.04.019. PMID 19515472.
      9. ↑ Doyle LA, Möller E, Dal Cin P, Fletcher CD, Mertens F, Hornick JL (2011). “MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma”. Am J Surg Pathol. 35 (5): 733–41. doi:10.1097/PAS.0b013e318210c268. PMID 21415703.
      10. ↑ Lee AF, Yip S, Smith AC, Hayes MM, Nielsen TO, O’Connell JX (2011). “Low-grade fibromyxoid sarcoma of the perineum with heterotopic ossification: case report and review of the literature”. Hum Pathol. 42 (11): 1804–9. doi:10.1016/j.humpath.2011.01.023. PMID 21658743.
      11. ↑ Brasanac D, Dzelatovic NS, Stojanovic M (2013). “Giant cystic superficial low-grade fibromyxoid sarcoma”. Ann Diagn Pathol. 17 (2): 222–5. doi:10.1016/j.anndiagpath.2011.09.001. PMID 22136982.
      12. ↑ Vernon SE, Bejarano PA (2006). “Low-grade fibromyxoid sarcoma: a brief review”. Arch Pathol Lab Med. 130 (9): 1358–60. doi:10.1043/1543-2165(2006)130[1358:LFSABR]2.0.CO;2. PMID 16948525.
      13. ↑ Lane KL, Shannon RJ, Weiss SW (1997). “Hyalinizing spindle cell tumor with giant rosettes: a distinctive tumor closely resembling low-grade fibromyxoid sarcoma”. Am J Surg Pathol. 21 (12): 1481–8. PMID 9414192.
      14. ↑ Nielsen GP, Selig MK, O’Connell JX, Keel SB, Dickersin GR, Rosenberg AE (1999). “Hyalinizing spindle cell tumor with giant rosettes: a report of three cases with ultrastructural analysis”. Am J Surg Pathol. 23 (10): 1227–32. PMID 10524523.
      15. ↑ Hanau CA, Miettinen M (1995). “Solitary fibrous tumor: histological and immunohistochemical spectrum of benign and malignant variants presenting at different sites”. Hum Pathol. 26 (4): 440–9. PMID 7705824.
      16. ↑ de Saint Aubain Somerhausen N, Rubin BP, Fletcher CD (1999). “Myxoid solitary fibrous tumor: a study of seven cases with emphasis on differential diagnosis”. Mod Pathol. 12 (5): 463–71. PMID 10349983.
      17. ↑ Cranshaw IM, Gikas PD, Fisher C, Thway K, Thomas JM, Hayes AJ (2009). “Clinical outcomes of extra-thoracic solitary fibrous tumours”. Eur J Surg Oncol. 35 (9): 994–8. doi:10.1016/j.ejso.2009.02.015. PMID 19345055.
      18. ↑ England DM, Hochholzer L, McCarthy MJ (1989). “Localized benign and malignant fibrous tumors of the pleura. A clinicopathologic review of 223 cases”. Am J Surg Pathol. 13 (8): 640–58. PMID 2665534.
      19. ↑ Demicco EG, Park MS, Araujo DM, Fox PS, Bassett RL, Pollock RE; et al. (2012). “Solitary fibrous tumor: a clinicopathological study of 110 cases and proposed risk assessment model”. Mod Pathol. 25 (9): 1298–306. doi:10.1038/modpathol.2012.83. PMID 22575866.
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      108. ↑ Wilkinson, Lana M.; Manson, David; Smith, Charles R. (2004). “Best Cases from the AFIP”. RadioGraphics. 24 (suppl_1): S237–S242. doi:10.1148/rg.24si035170. ISSN 0271-5333.
      109. ↑ Bernthal, Nicholas; Jones, Kevin; Monument, Michael; Liu, Ting; Viskochil, David; Randall, R. (2013). “Lost in Translation: Ambiguity in Nerve Sheath Tumor Nomenclature and Its Resultant Treatment Effect”. Cancers. 5 (4): 519–528. doi:10.3390/cancers5020519. ISSN 2072-6694.
      110. ↑ Mautner, V. F.; Friedrich, R. E.; von Deimling, A.; Hagel, C.; Korf, B.; Knöfel, M. T.; Wenzel, R.; Fünsterer, C. (2003). “Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma”. Neuroradiology. 45 (9): 618–625. doi:10.1007/s00234-003-0964-6. ISSN 0028-3940.
      111. ↑ Shen, M H; Harper, P S; Upadhyaya, M (1996). “Molecular genetics of neurofibromatosis type 1 (NF1)”. Journal of Medical Genetics. 33 (1): 2–17. doi:10.1136/jmg.33.1.2. ISSN 1468-6244.
      112. ↑ Rubin, Joshua B.; Gutmann, David H. (2005). “Neurofibromatosis type 1 — a model for nervous system tumour formation?”. Nature Reviews Cancer. 5 (7): 557–564. doi:10.1038/nrc1653. ISSN 1474-175X.
      113. ↑ Sailon AM, Cappuccino G, Hameed M, Fleegler EJ (2008). “Nodular fasciitis of the hand over the metacarpophalangeal joint: a case report”. Eplasty. 8: e38. PMC 2491338. PMID 18725954.
      114. ↑ Emori, M; Shimizu, J; Murahashi, Y; Mizushima, E; Sugita, S; Hasegawa, T; Yamashita, T (2018). “Nodular fasciitis involving the palm”. The Annals of The Royal College of Surgeons of England. 100 (5): e128–e131. doi:10.1308/rcsann.2018.0061. ISSN 0035-8843.
      115. ↑ Kubota, Kensuke; Okada, Seiji; Maeda, Takeshi; Matsumoto, Yoshihiro; Sakamoto, Akio; Harimaya, Katsumi; Saiwai, Hirokazu; Kumamaru, Hiromi; Oda, Yoshinao; Iwamoto, Yukihide (2012). “Extradural Nodular Fasciitis Arising in the Spinal Canal”. Spine. 37 (2): E133–E137. doi:10.1097/BRS.0b013e318224568a. ISSN 0362-2436.
      116. ↑ Plaza JA, Mayerson J, Wakely PE (2005). “Nodular fasciitis of the hand: a potential diagnostic pitfall in fine-needle aspiration cytopathology”. Am J Clin Pathol. 123 (3): 388–93. doi:10.1309/PWD0-HB51-1L3V-R56W. PMID 15716235.
      117. ↑ Wagner LM, Gelfand MJ, Laor T, Ryckman FC, Al-Ghawi H, Bove KE (2011). “A welcome surprise: nodular fasciitis presenting as soft tissue sarcoma”. J Pediatr Hematol Oncol. 33 (4): 316–9. doi:10.1097/MPH.0b013e3181e88649. PMID 20975584.
      118. ↑ Grobmyer SR, Knapik JA, Foss RM, Copeland EM, Hochwald SN (2009). “Nodular fasciitis: differential considerations and current management strategies”. Am Surg. 75 (7): 610–4. PMID 19655607.
      119. ↑ Yamamoto H, Yamada N, Yamada I, Hashikawa K, Kagimoto K, Ookubo M; et al. (1998). “[A case of nodular fasciitis of the chest wall]”. Kyobu Geka. 51 (3): 246–9. PMID 9528235.
      120. ↑ Chiarini L, Lo Russo L, Figurelli S, Procacci P, Rubini C, Lo Muzio L (2008). “Nodular fasciitis of the face: aesthetic considerations”. Aesthetic Plast Surg. 32 (3): 560–2. doi:10.1007/s00266-008-9136-8. PMID 18330617.
      121. ↑ Oliveira AM, Chou MM (2014). “USP6-induced neoplasms: the biologic spectrum of aneurysmal bone cyst and nodular fasciitis”. Hum Pathol. 45 (1): 1–11. doi:10.1016/j.humpath.2013.03.005. PMID 23769422.
      122. ↑ Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L; et al. (2011). “Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion”. Lab Invest. 91 (10): 1427–33. doi:10.1038/labinvest.2011.118. PMID 21826056.
      123. ↑ . doi:10.4197/Med. 17-3.1 Check |doi= value (help). Missing or empty |title= (help)
      124. ↑ Russell SB, Russell JD, Trupin KM, Gayden AE, Opalenik SR, Nanney LB; et al. (2010). “Epigenetically altered wound healing in keloid fibroblasts”. J Invest Dermatol. 130 (10): 2489–96. doi:10.1038/jid.2010.162. PMC 2939920. PMID 20555348.
      125. ↑ Smith JC, Boone BE, Opalenik SR, Williams SM, Russell SB (2008). “Gene profiling of keloid fibroblasts shows altered expression in multiple fibrosis-associated pathways”. J Invest Dermatol. 128 (5): 1298–310. doi:10.1038/sj.jid.5701149. PMC 2933038. PMID 17989729.
      126. ↑ Huang, Chenyu; Murphy, George F.; Akaishi, Satoshi; Ogawa, Rei (2013). “Keloids and Hypertrophic Scars”. Plastic and Reconstructive Surgery Global Open. 1 (4): e25. doi:10.1097/GOX.0b013e31829c4597. ISSN 2169-7574.
      127. ↑ Smoll NR (2012). “Relative survival of childhood and adult medulloblastomas and primitive neuroectodermal tumors (PNETs)”. Cancer. 118 (5): 1313–22. doi:10.1002/cncr.26387. PMID 21837678.
      128. ↑ Eibl RH, Kleihues P, Jat PS, Wiestler OD (1994). “A model for primitive neuroectodermal tumors in transgenic neural transplants harboring the SV40 large T antigen”. Am J Pathol. 144 (3): 556–64. PMC 1887088. PMID 8129041.
      129. ↑ Ohgaki H, Eibl RH, Wiestler OD, Yasargil MG, Newcomb EW, Kleihues P (1991). “p53 mutations in nonastrocytic human brain tumors”. Cancer Res. 51 (22): 6202–5. PMID 1933879.

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      Epidemiology and Demographics

      Epidemiology and Demographics

      Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

      Overview

      Desmoid tumor accounts for 0.03% of all tumors and less than 3% of all the soft tissue tumors. It affects 1 to 2 per 500,000 people worldwide. Incidence of desmoid tumor is approximately two to four per million population per year in general population. Familial desmoids are present in 10% to 25% of FAP patients. Gender ratio is 2:1 for females to males and commonly affects individuals between 20 to 60 years of age.

      Epidemiology and Demographics

      Incidence

      Prevalence

      Gender

      • Female are more commonly affected by desmoid tumor than male.[10]
      • The female of fertile age to male ratio is approximately 2:1.
      • Incidence is the same in both genders in children.

      Age

      • Desmoid tumor commonly affects individuals between 20 to 60 years of age.[2][11]
      • Desmoid tomur commonly affects 30 to 40 years.

      Reference

      1. ↑ Reitamo JJ, Häyry P, Nykyri E, Saxén E (1982). “The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population”. Am J Clin Pathol. 77 (6): 665–73. PMID 7091046.
      2. ↑ 2.0 2.1 Desmoid tumor. Dr Tim Luijkx and Radswiki et al.Radiopaedia 2015.http://radiopaedia.org/articles/desmoid-tumour. Accessed on January 21, 2016
      3. ↑ Bertario L, Russo A, Sala P, Eboli M, Giarola M, D’amico F; et al. (2001). “Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis”. Int J Cancer. 95 (2): 102–7. PMID 11241320.
      4. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). “Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families”. Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
      5. ↑ Ferenc T, Sygut J, Kopczyński J, Mayer M, Latos-Bieleńska A, Dziki A; et al. (2006). “Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background”. Pol J Pathol. 57 (1): 5–15. PMID 16739877.
      6. ↑ Leal RF, Silva PV, Ayrizono Mde L, Fagundes JJ, Amstalden EM, Coy CS (2010). “Desmoid tumor in patients with familial adenomatous polyposis”. Arq Gastroenterol. 47 (4): 373–8. PMID 21225148.
      7. ↑ Fisher C, Thway K (2014). “Aggressive fibromatosis”. Pathology. 46 (2): 135–40. doi:10.1097/PAT.0000000000000045. PMID 24378386.
      8. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). “Desmoid tumour biology in patients with familial adenomatous polyposis coli”. Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
      9. ↑ Fallen T, Wilson M, Morlan B, Lindor NM (2006). “Desmoid tumors — a characterization of patients seen at Mayo Clinic 1976-1999”. Fam Cancer. 5 (2): 191–4. doi:10.1007/s10689-005-5959-5. PMID 16736290.
      10. ↑ Mankin HJ, Hornicek FJ, Springfield DS (2010). “Extra-abdominal desmoid tumors: a report of 234 cases”. J Surg Oncol. 102 (5): 380–4. doi:10.1002/jso.21433. PMID 19877160.
      11. ↑ Economou, Athanasios; Pitta, Xanthi; Andreadis, Efstathios; Papapavlou, Leonidas; Chrissidis, Thomas (2011). “Desmoid tumor of the abdominal wall: a case report”. Journal of Medical Case Reports. 5 (1): 326. doi:10.1186/1752-1947-5-326. ISSN 1752-1947.

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      Risk Factors

      Risk Factors

      Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

      Overview

      Common risk factors in the development of desmoid tumor include personal or family history of familial adenomatous polyposis (FAP), Gardner syndrome, Turcot syndrome, specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3′ of codon 1444, family history of desmoid tumor, estrogen therapy, oral contraceptive pills, pregnancy, history of antecedent surgical or accidental trauma or repeated irradiation at the tumor site, female gender and androgens.

      Risk Factors

      Common risk factors in the development of desmoid tumor include:[1]

      Common risk factors for development of desmoid tumor
      Risk factors Associated features
      Familial adenomatous polyposis (FAP) (10-20%)[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]
      Gardner syndrome (inherited desmoids)
      Turcot syndrome
      Specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3′ end of the APC gene, specifically between codons 1445 and 1580[12][18][19][20][21][22][23][24][25]
      • Mutations between codons 1310 and 2011 are associated with a sixfold risk of desmoid tumors relative to the low-risk reference region (159 to 495)
      Family history of desmoid tumor
      Family history of colon cancer/FAP
      Estrogen therapy[26]
      Oral contraceptive pills
      Pregnancy[27][28][29][30]
      History of antecedent surgical/accidental trauma at the tumor site (30%)[31][32]
      History of breast cancer[33] History of breast cancer or previous breast surgery is associated with breast desmoids
      History of repeated irradiation to a certain body part
      Female gender
      Sex hormones/androgens [34]

      Reference

      1. ↑ Jenayah, Amel Achour; Bettaieb, Hajer; Saoudi, Sarra; Gharsa, Anissa; Sfar, Ezzeddine; Boudaya, Fethia; Chelli, Dalenda (2015). “Desmoid tumors: clinical features and treatment options: a case report and a review of literature”. Pan African Medical Journal. 21. doi:10.11604/pamj.2015.21.93.7037. ISSN 1937-8688.
      2. ↑ Nieuwenhuis MH, Casparie M, Mathus-Vliegen LM, Dekkers OM, Hogendoorn PC, Vasen HF (2011). “A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses”. Int J Cancer. 129 (1): 256–61. doi:10.1002/ijc.25664. PMID 20830713.
      3. ↑ Fallen T, Wilson M, Morlan B, Lindor NM (2006). “Desmoid tumors — a characterization of patients seen at Mayo Clinic 1976-1999”. Fam Cancer. 5 (2): 191–4. doi:10.1007/s10689-005-5959-5. PMID 16736290.
      4. ↑ Koskenvuo L, Peltomäki P, Renkonen-Sinisalo L, Gylling A, Nieminen TT, Ristimäki A; et al. (2016). “Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis”. J Surg Oncol. 113 (2): 209–12. doi:10.1002/jso.24117. PMID 26663236.
      5. ↑ Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S; et al. (2011). “Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study”. Dis Colon Rectum. 54 (10): 1229–34. doi:10.1097/DCR.0b013e318227e4e8. PMID 21904137.
      6. ↑ Clark SK, Neale KF, Landgrebe JC, Phillips RK (1999). “Desmoid tumours complicating familial adenomatous polyposis”. Br J Surg. 86 (9): 1185–9. doi:10.1046/j.1365-2168.1999.01222.x. PMID 10504375.
      7. ↑ Heiskanen I, Järvinen HJ (1996). “Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment”. Int J Colorectal Dis. 11 (4): 157–62. PMID 8876270.
      8. ↑ Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV; et al. (1994). “Desmoid tumours in familial adenomatous polyposis”. Gut. 35 (3): 377–81. PMC 1374594. PMID 8150351.
      9. ↑ Hizawa K, Iida M, Mibu R, Aoyagi K, Yao T, Fujishima M (1997). “Desmoid tumors in familial adenomatous polyposis/Gardner’s syndrome”. J Clin Gastroenterol. 25 (1): 334–7. PMID 9412915.
      10. ↑ Griffioen G, Bus PJ, Vasen HF, Verspaget HW, Lamers CB (1998). “Extracolonic manifestations of familial adenomatous polyposis: desmoid tumours, and upper gastrointestinal adenomas and carcinomas”. Scand J Gastroenterol Suppl. 225: 85–91. PMID 9515758.
      11. ↑ Tsukada K, Church JM, Jagelman DG, Fazio VW, McGannon E, George CR; et al. (1992). “Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis”. Dis Colon Rectum. 35 (1): 29–33. PMID 1310270.
      12. ↑ 12.0 12.1 Bertario L, Russo A, Sala P, Eboli M, Giarola M, D’amico F; et al. (2001). “Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis”. Int J Cancer. 95 (2): 102–7. PMID 11241320.
      13. ↑ Koh PK, Loi C, Cao X, Cheah PY, Ho KS, Ooi BS; et al. (2007). “Mesenteric desmoid tumors in Singapore familial adenomatous polyposis patients: clinical course and genetic profile in a predominantly Chinese population”. Dis Colon Rectum. 50 (1): 75–82. doi:10.1007/s10350-006-0759-z. PMID 17082890.
      14. ↑ Church JM (1998). “Mucosal ischemia caused by desmoid tumors in patients with familial adenomatous polyposis: report of four cases”. Dis Colon Rectum. 41 (5): 661–3. PMID 9593254.
      15. ↑ Sagar PM, Möslein G, Dozois RR (1998). “Management of desmoid tumors in patients after ileal pouch-anal anastomosis for familial adenomatous polyposis”. Dis Colon Rectum. 41 (11): 1350–5, discussion 1355-6. PMID 9823798.
      16. ↑ Penna C, Tiret E, Parc R, Sfairi A, Kartheuser A, Hannoun L; et al. (1993). “Operation and abdominal desmoid tumors in familial adenomatous polyposis”. Surg Gynecol Obstet. 177 (3): 263–8. PMID 8395084.
      17. ↑ Kadmon M, Möslein G, Buhr HJ, Herfarth C (1995). “[Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register]”. Chirurg. 66 (10): 997–1005. PMID 8529453.
      18. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). “Desmoid tumour biology in patients with familial adenomatous polyposis coli”. Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
      19. ↑ Nieuwenhuis MH, Vasen HF (2007). “Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature”. Crit Rev Oncol Hematol. 61 (2): 153–61. doi:10.1016/j.critrevonc.2006.07.004. PMID 17064931.
      20. ↑ Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK (2011). “Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis”. Colorectal Dis. 13 (11): 1222–9. doi:10.1111/j.1463-1318.2010.02345.x. PMID 20528895.
      21. ↑ Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T; et al. (1995). “Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444”. Hum Mol Genet. 4 (3): 337–40. PMID 7795585.
      22. ↑ Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P; et al. (2003). “Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis”. J Clin Oncol. 21 (9): 1698–707. doi:10.1200/JCO.2003.09.118. PMID 12721244.
      23. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). “Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families”. Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
      24. ↑ Wallis YL, Morton DG, McKeown CM, Macdonald F (1999). “Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition”. J Med Genet. 36 (1): 14–20. PMC 1762945. PMID 9950360.
      25. ↑ Church J, Xhaja X, LaGuardia L, O’Malley M, Burke C, Kalady M (2015). “Desmoids and genotype in familial adenomatous polyposis”. Dis Colon Rectum. 58 (4): 444–8. doi:10.1097/DCR.0000000000000316. PMID 25751801.
      26. ↑ Desmoid tumor. Dr Tim Luijkx and Radswiki et al. Radiopedia 2015 http://radiopaedia.org/articles/aggressive-fibromatosis. Accessed on January 20, 2015
      27. ↑ Gansar GF, Markowitz IP, Cerise EJ (1987). “Thirty years of experience with desmoid tumors at Charity Hospital”. Am Surg. 53 (6): 318–9. PMID 3579044.
      28. ↑ De Cian F, Delay E, Rudigoz RC, Ranchère D, Rivoire M (1999). “Desmoid tumor arising in a cesarean section scar during pregnancy: monitoring and management”. Gynecol Oncol. 75 (1): 145–8. doi:10.1006/gyno.1999.5539. PMID 10502442.
      29. ↑ Lewis JJ, Boland PJ, Leung DH, Woodruff JM, Brennan MF (1999). “The enigma of desmoid tumors”. Ann Surg. 229 (6): 866–72, discussion 872-3. PMC 1420834. PMID 10363901.
      30. ↑ Fiore M, Coppola S, Cannell AJ, Colombo C, Bertagnolli MM, George S; et al. (2014). “Desmoid-type fibromatosis and pregnancy: a multi-institutional analysis of recurrence and obstetric risk”. Ann Surg. 259 (5): 973–8. doi:10.1097/SLA.0000000000000224. PMID 24477160.
      31. ↑ Schlemmer M (2005). “Desmoid tumors and deep fibromatoses”. Hematol Oncol Clin North Am. 19 (3): 565–71, vii–viii. doi:10.1016/j.hoc.2005.03.008. PMID 15939197.
      32. ↑ Lopez R, Kemalyan N, Moseley HS, Dennis D, Vetto RM (1990). “Problems in diagnosis and management of desmoid tumors”. Am J Surg. 159 (5): 450–3. PMID 2139764.
      33. ↑ Neuman HB, Brogi E, Ebrahim A, Brennan MF, Van Zee KJ (2008). “Desmoid tumors (fibromatoses) of the breast: a 25-year experience”. Ann Surg Oncol. 15 (1): 274–80. doi:10.1245/s10434-007-9580-8. PMID 17896146.
      34. ↑ Hong H, Nadesan P, Poon R, Alman BA (2011). “Testosterone regulates cell proliferation in aggressive fibromatosis (desmoid tumour)”. Br J Cancer. 104 (9): 1452–8. doi:10.1038/bjc.2011.107. PMC 3101926. PMID 21468052.

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      Natural History, Complications and Prognosis

      Natural History, Complications and Prognosis

      Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]Faizan Sheraz, M.D. [3]

      Overview

      Desmoids can develop virtually at any site of body causing wide range of clinical symptoms depending on size and tumor location or they can cause no symptoms at all. They may be accidentally picked up on a scan or a routine physical examination done for other medical reasons. They might grow aggressively or slowly or remian stable, hence, exhibiting wide range of behaviors in different individuals. Common complications of desmoid tumor include progression to agressive fibromatosis, involvement of intra-abdominal viscera that may lead to rupture of intestines, compression of the kidneys or ureters, rectal bleeding, compression of critical blood vessels such as the mesenteric vessels and the vena cava, amputation and loss of significant portions of foregut post-surgery. Five-year progression-free survival rate is 50% in patients with a primary or recurrent desmoid who are not treated initially with surgery, radiotherapy (RT), or systemic therapy. Massive and inoperable desmoids have become an important cause of morbidity and mortality in FAP patients post-colectomy. Desmoid tumor associated with FAP has the least favorable prognosis due to high recurrence rate. Whereas, non-FAP-associated intra-abdominal fibromatosis has a low recurrence rate after surgical resection.

      Natural history

      Complications

      Common complications of desmoid tumors include:

      The progression of the intra-abdominal desmoid in patient 2. a CT scan before DOX/DTIC therapy showing a large mass in the abdomen and a desmoid tumor on the left abdominal wall. b CT scan of the same patient after DOX/DTIC therapy, showing tumor regression and perforation (as indicated by the white arrow, the gas was encapsulated by the tumor). c Follow-up CT scan in December 2015 Source: Li W. et al, Department of Oncology, Zhongshan Hospital, Fudan University, Shanghai, China

      Prognosis

      Recurrence of desmoid tumors

      Prognostic stratification system for FAP-associated desmoids (Cleveland Clinic)

      Prognostic stratification system for FAP-associated desmoids (Cleveland Clinic)
      Tumor stage Characteristic features Five-year survival rate
      Stage I 95%
      Stage II 100%
      Stage III 89%
      Stage IV 76%

      Reference

      1. ↑ Church JM (1998). “Mucosal ischemia caused by desmoid tumors in patients with familial adenomatous polyposis: report of four cases”. Dis Colon Rectum. 41 (5): 661–3. PMID 9593254.
      2. ↑ Sagar PM, Möslein G, Dozois RR (1998). “Management of desmoid tumors in patients after ileal pouch-anal anastomosis for familial adenomatous polyposis”. Dis Colon Rectum. 41 (11): 1350–5, discussion 1355-6. PMID 9823798.
      3. ↑ Penna C, Tiret E, Parc R, Sfairi A, Kartheuser A, Hannoun L; et al. (1993). “Operation and abdominal desmoid tumors in familial adenomatous polyposis”. Surg Gynecol Obstet. 177 (3): 263–8. PMID 8395084.
      4. ↑ Kadmon M, Möslein G, Buhr HJ, Herfarth C (1995). “[Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register]”. Chirurg. 66 (10): 997–1005. PMID 8529453.
      5. ↑ Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E (1990). “Mortality in patients with familial adenomatous polyposis”. Dis Colon Rectum. 33 (8): 639–42. PMID 2165452.
      6. ↑ 6.0 6.1 6.2 Quintini C, Ward G, Shatnawei A, Xhaja X, Hashimoto K, Steiger E; et al. (2012). “Mortality of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis: a single center review of 154 patients”. Ann Surg. 255 (3): 511–6. doi:10.1097/SLA.0b013e31824682d4. PMID 22323009.
      7. ↑ Seow-Choen F (2008). “The management of desmoids in patients with familial adenomatous polyposis (FAP)”. Acta Chir Iugosl. 55 (3): 83–7. PMID 19069698.
      8. ↑ Soravia C, Berk T, McLeod RS, Cohen Z (2000). “Desmoid disease in patients with familial adenomatous polyposis”. Dis Colon Rectum. 43 (3): 363–9. PMID 10733118.
      9. ↑ Goy BW, Lee SP, Eilber F, Dorey F, Eckardt J, Fu YS; et al. (1997). “The role of adjuvant radiotherapy in the treatment of resectable desmoid tumors”. Int J Radiat Oncol Biol Phys. 39 (3): 659–65. PMID 9336146.
      10. ↑ Lynch HT, Fitzgibbons R (1996). “Surgery, desmoid tumors, and familial adenomatous polyposis: case report and literature review”. Am J Gastroenterol. 91 (12): 2598–601. PMID 8946994.
      11. ↑ Lefevre JH, Parc Y, Kernéis S, Goasguen N, Benis M, Parc R; et al. (2008). “Risk factors for development of desmoid tumours in familial adenomatous polyposis”. Br J Surg. 95 (9): 1136–9. doi:10.1002/bjs.6241. PMID 18581438.
      12. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). “Desmoid tumour biology in patients with familial adenomatous polyposis coli”. Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
      13. ↑ Wilkinson MJ, Fitzgerald JE, Thomas JM, Hayes AJ, Strauss DC (2012). “Surgical resection for non-familial adenomatous polyposis-related intra-abdominal fibromatosis”. Br J Surg. 99 (5): 706–13. doi:10.1002/bjs.8703. PMID 22359346.

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      Diagnostic study of choice | History and Symptoms | Physical Examination |Laboratory Findings | CT | MRI | Other Imaging Findings | Other Diagnostic Studies

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      Treatment

      Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

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