Atypical teratoid rhabdoid tumor
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]Sabawoon Mirwais, M.B.B.S, M.D.[3]
Synonyms and keywords: ATRT; AT/RT; Atypical teratoid rhabdoid tumour; Atypical teratoid/Rhabdoid tumor; Atypical teratoid/Rhabdoid tumour; Primary brain tumor; Brain tumour
Overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Atypical teratoid rhabdoid tumor is an uncommon WHO Grade IV tumor, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells. Gene involved in the pathogenesis of atypical teratoid rhomboid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.[1] Atypical teratoid rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[2] On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular.[3] On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.[2] Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers such as epithelial membrane antigen, vimentin, and smooth muscle actin.[4][5] Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[6] Atypical teratoid rhabdoid tumor comprises approximately 1–2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases.[1] The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States.[7] Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.[1] If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death.[3] Common complications of atypical teratoid rhabdoid tumor include obstructive hydrocephalus, leptomeningeal dissemination, and recurrence.[3] Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.[1] Symptoms of atypical teratoid rhabdoid tumor include headache, vomiting, increased head size in infant, trouble with balance and coordination, and weight loss. Common physical examination findings of atypical teratoid rhabdoid tumor include papilledema, ataxia, upper motor neuron lesion, and hemiparesis.[3] On MRI, atypical teratoid rhabdoid tumor is characterized by iso- to slight hyperintensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There is heterogenous enhancement on contrast administration.[8] The predominant therapy for atypical teratoid rhabdoid tumor is surgical resection. Adjunctive chemotherapy and radiation is required.[2][9]
Historical Perspective
Atypical teratoid rhabdoid tumor was first reported by Bonnin et al., in 1984.[1] It was incorporated as a separate entity into the WHO classification of tumors of the nervous system, in 1993.
Classification
There is no classification system established for atypical teratoid rhabdoid tumor.[10]
Pathophysiology
Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.[2] Gene involved in the pathogenesis of atypical teratoid rhomboid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.[1] Atypical teratoid rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[2] On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular.[3] On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.[2] Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers such as epithelial membrane antigen, vimentin, and smooth muscle actin.[4][5]
Causes
There are no established direct causes for atypical teratoid rhabdoid tumor. The development of atypical teratoid rhabdoid tumor is the result of multiple genetic mutations. Common genetic mutations involved in the development of atypical teratoid rhabdoid tumor can be found here.[1]
Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases
Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[6]
Epidemiology and Demographics
Atypical teratoid rhabdoid tumor comprises approximately 1–2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases.[1] The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States.[7] Atypical teratoid rhabdoid tumor is a rare disease that tends to affect the children population.[11][12] The median age at diagnosis is approximately 24-30 months.[2] Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.[1]
Risk Factors
There are no established risk factors for atypical teratoid rhabdoid tumor.
Screening
There is insufficient evidence to recommend routine screening for atypical teratoid rhabdoid tumor.
Natural History, Complications and Prognosis
If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death.[3] Common complications of atypical teratoid rhabdoid tumor include obstructive hydrocephalus, leptomeningeal dissemination, and recurrence.[3] Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.[1]
Diagnosis
Diagnostic Criteria
The diagnosis of atypical teratoid rhabdoid tumor is based on the current WHO classification of tumors of the central nervous system criteria, which include presence of rhabdoid tumor cells and/or divergent differentiation along epithelial, mesenchymal, neuronal, or glial lines in addition to the complete loss of SMARCB1 protein expression in tumor cell nuclei, but the expression retained in preexisting cells (e.g., endothelial cells).[2]
Staging
There is no established system for the staging of atypical teratoid rhabdoid tumor.
History and Symptoms
When evaluating a patient for atypical teratoid rhabdoid tumor, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include the review of associated conditions such as rhabdoid predisposition syndrome.[2] Symptoms of atypical teratoid rhabdoid tumor include headache, vomiting, increased head size in infant, trouble with balance and coordination, and weight loss.[3][13][14]
Physical Examination
Common physical examination findings of atypical teratoid rhabdoid tumor include papilledema, ataxia, upper motor neuron lesion, and hemiparesis.[3]
Laboratory Findings
CSF analysis is done to detect any leptomeningeal dissemination with involvement of the cerebrospinal fluid. Large tumor cells, eccentricity of the nuclei, and prominent nucleoli are consistent findings.[15]
CT
Head CT scan is helpful in the diagnosis of atypical teratoid rhabdoid tumor. On head CT scan, atypical teratoid rhabdoid tumor is characterized by an isodense, calcified mass with heterogenous enhancement. There may be associated findings of obstructive hydrocephalus.[16]
MRI
Brain MRI is helpful in the diagnosis of atypical teratoid rhabdoid tumor. On MRI, atypical teratoid rhabdoid tumor is characterized by iso- to slight hyperintensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There is heterogenous enhancement on contrast administration.[8]
Ultrasound
Ultrasound may be performed to detect atypical teratoid rhabdoid tumor in other parts of the body, especially the kidneys.[17]
Other Imaging Findings
Other imaging studies for atypical teratoid rhabdoid tumor include magnetic resonance spectroscopy, which demonstrates elevated choline and N-Acetylaspartate.[8]
Other Diagnostic Studies
Other diagnostic studies for atypical teratoid rhabdoid tumor include biopsy (definitive diagnostic test), fluorescence in situ hybridization (abnormalities of chromosome 22q11.2), and immunohistochemistry (loss of INI-1 staining in the neoplastic cells).[18][13]
Treatment
Medical Therapy
The predominant therapy for atypical teratoid rhabdoid tumor is surgical resection. Adjunctive chemotherapy and radiation is required.[2][9]
Surgery
Surgery is the mainstay of treatment for atypical teratoid rhabdoid tumor.[1] Surgery plays a critical role in obtaining tissue to make an accurate diagnosis. Stem cell transplantation is indicated in very aggressive atypical teratoid rhabdoid tumors, to receive high doses of chemotherapy.[9]
Primary Prevention
There are no primary preventive measures available for atypical teratoid rhabdoid tumor.
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 Slavc, Irene; Chocholous, Monika; Leiss, Ulrike; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo A.; Dieckmann, Karin; Woehrer, Adelheid; Peters, Christina; Widhalm, Georg; Dorfer, Christian; Czech, Thomas (2014). “Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992-2012”. Cancer Medicine. 3 (1): 91–100. doi:10.1002/cam4.161. ISSN 2045-7634.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Chan KH, Mohammed Haspani MS, Tan YC, Kassim F (2011). “A case report of atypical teratoid/rhabdoid tumour in a 9-year-old girl”. Malays J Med Sci. 18 (3): 82–6. PMC 3216225. PMID 22135607.
- ↑ 4.0 4.1 Markers of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ 5.0 5.1 Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA (2006). “Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes”. AJNR Am J Neuroradiol. 27 (5): 962–71. PMID 16687525.
- ↑ 6.0 6.1 Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ 7.0 7.1 Atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 10, 2015
- ↑ 8.0 8.1 8.2 MRI brain radiographic features of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 16, 2015
- ↑ 9.0 9.1 9.2 Treatment and care options of atypical teratoid rhabdoid tumor. Dana-Farber and Boston Children hospital cancer and blood disorder center 2015. http://www.danafarberbostonchildrens.org/conditions/brain-tumor/atypical-teratoid-rhabdoid-tumor.aspx. Accessed on December 21, 2015
- ↑ Classification of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT—Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 14, 2015
- ↑ Epidemiology of atypical teratoid rhabdoid tumor. Dr Bruno Di Muzio and Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 10, 2015
- ↑ Clinical presentation of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq#link/_113_toc. Accessed on December 16, 2015
- ↑ 13.0 13.1 Udaka, Y. T.; Shayan, K.; Chuang, N. A.; Crawford, J. R. (2013). “Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child”. Case Reports in Oncological Medicine. 2013: 1–4. doi:10.1155/2013/815923. ISSN 2090-6706.
- ↑ Symptoms of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT—Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 14, 2015
- ↑ Lu L, Wilkinson EJ, Yachnis AT (2000). “CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report”. Diagn. Cytopathol. 23 (5): 329–32. PMID 11074628.
- ↑ CT brain radiographic features of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 16, 2015
- ↑ Diagnosis of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT—Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 16, 2015
- ↑ Diagnostic evaluation of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq#link/_113_toc. Accessed on December 16, 2015
Historical Perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Atypical teratoid rhabdoid tumor was first reported by Bonnin et al., in 1984. It was incorporated as a separate entity into the WHO classification of tumors of the nervous system, in 1993.
Historical Perspective
- Atypical teratoid rhabdoid tumor was first reported by Bonnin et al., in 1984.[1]
- It was incorporated as a separate entity into the WHO classification of tumors of the nervous system, in 1993.
- After the first case of atypical teratoid rhabdoid tumor was reported, it was followed by a series of multiple case reports by Biggs et al. (1987); Ho et al. (1990); Chou and Anderson (1991); Agranovich et al. (1992); and Satoh et al. (1993).
- Previously reported cases of atypical teratoid rhabdoid tumor were often associated with malignant rhabdoid tumors (MRT) of the kidney, which had been identified a decade earlier upon central review of Wilms’ tumor treated in a collaborative group. This group noted that certain patients had tumors with different pathologic features and that these features were associated with significantly worse outcomes.[1]
- Similarly, atypical teratoid rhabdoid tumor was often categorized with primitive neuroectodermal tumors (PNETs), along with medulloblastoma, due to histologic similarities, but they are now separated from other embryonal tumors by the presence of rhabdoid cells and specific immunohistochemistry.
- Atypical teratoid rhabdoid tumor was only recognized as an entity in 1996 and added to the World Health Organization (WHO) brain tumor classification in 2000 (grade IV).[2]
References
- ↑ 1.0 1.1 Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ Atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 14, 2015
Classification
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
There is no classification system established for atypical teratoid rhabdoid tumor.
Classification
There is no classification system established for atypical teratoid rhabdoid tumor.[1]
References
- ↑ Classification of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT—Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 14, 2015
Pathophysiology
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like mesenchymal, and/or epithelial differentiated tumor cells. Gene involved in the pathogenesis of atypical teratoid rhabdoid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene. Atypical teratoid rhabdoid tumor may be associated with rhabdoid predisposition syndrome. On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular. On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures. Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers such as epithelial membrane antigen, vimentin, and smooth muscle actin.
Pathophysiology
Pathogenesis
- Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like mesenchymal, and/or epithelial differentiated tumor cells.[1]
Genetics
- Gene involved in the pathogenesis of atypical teratoid rhabdoid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.[2]
- Atypical teratoid rhabdoid tumor is characterized by loss of the long arm of chromosome 22, which results in loss of the hSNF5/INI-1 gene.
- INI1, a member of the SWI/SNF chromatin remodeling complex, is important in the maintenance of the mitotic spindle and cell cycle control.
Associated Conditions
Gross Pathology
- On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular.[3]
- Common intracranial sites associated with atypical teratoid rhabdoid tumor include:[4]
| Infratentorial | Supratentorial |
|---|---|
Microscopic Pathology
- On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.[1]
- According to the WHO classification of tumors of the central nervous system, atypical teratoid rhabdoid tumor is classified into a WHO grade IV tumor.
Immunohistochemistry
- Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers, such as:[5][6]
References
- ↑ 1.0 1.1 1.2 Slavc, Irene; Chocholous, Monika; Leiss, Ulrike; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo A.; Dieckmann, Karin; Woehrer, Adelheid; Peters, Christina; Widhalm, Georg; Dorfer, Christian; Czech, Thomas (2014). “Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992-2012”. Cancer Medicine. 3 (1): 91–100. doi:10.1002/cam4.161. ISSN 2045-7634.
- ↑ Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ Chan KH, Mohammed Haspani MS, Tan YC, Kassim F (2011). “A case report of atypical teratoid/rhabdoid tumour in a 9-year-old girl”. Malays J Med Sci. 18 (3): 82–6. PMC 3216225. PMID 22135607.
- ↑ Location of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ Markers of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA (2006). “Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes”. AJNR Am J Neuroradiol. 27 (5): 962–71. PMID 16687525.
Causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
There is no established cause of atypical teratoid rhabdoid tumor. The development of atypical teratoid rhabdoid tumor is the result of multiple genetic mutations. Common genetic mutations involved in the development of atypical teratoid rhabdoid tumor can be found here.
Causes
- There is no established cause of atypical teratoid rhabdoid tumor.
- The development of atypical teratoid rhabdoid tumor is the result of multiple genetic mutations.
- Common genetic mutations involved in the development of atypical teratoid rhabdoid tumor can be found here.[1]
References
- ↑ Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]Sabawoon Mirwais, M.B.B.S, M.D.[3]
Overview
Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[1][2]
Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases
Atypical teratoid rhabdoid tumor must be differentiated from:[1][2]
- Medulloblastoma
- Pineoblastoma
- Spinal primitive neuroectodermal tumors
- Other pineal gland masses
- Intracerebral teratoma
- Choroid plexus carcinoma
On the basis of seizure, visual disturbance, and constitutional symptoms, atypical teratoid rhabdoid tumor must be differentiated from Medulloblastoma, Pilocytic astrocytoma, Ependymoma, Craniopharyngioma, and Pinealoma.
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard |
Additional findings | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | |||||||||
| Lab Findings | MRI | Immunohistopathology | ||||||||
| Head- ache |
Seizure | Visual disturbance | Constitutional | Focal neurological deficit | ||||||
| Childhood primary brain tumors | ||||||||||
| Atypical teratoid rhabdoid tumor | + | +/- | +/- | – | + | On CSF analysis: |
|
|||
| Medulloblastoma [3][4][5] |
+ | +/− | +/− | − | + | − |
|
|
| |
| Pilocytic astrocytoma [6][7][8] |
+ | +/− | +/− | − | + | − |
|
|
| |
| Ependymoma [9][10] |
+ | +/− | +/− | − | + | − |
|
|
| |
| Craniopharyngioma [11][12][13][10] |
+ | +/− | + Bitemporal hemianopia | − | + |
|
|
|
| |
| Pinealoma [14][15][16] |
+ | +/− | +/− | − | + vertical gaze palsy |
|
|
|
| |
References
- ↑ 1.0 1.1 Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ 2.0 2.1 Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015
- ↑ Dorwart, R H; Wara, W M; Norman, D; Levin, V A (1981). “Complete myelographic evaluation of spinal metastases from medulloblastoma”. Radiology. 139 (2): 403–408. doi:10.1148/radiology.139.2.7220886. ISSN 0033-8419.
- ↑ Fruehwald-Pallamar, Julia; Puchner, Stefan B.; Rossi, Andrea; Garre, Maria L.; Cama, Armando; Koelblinger, Claus; Osborn, Anne G.; Thurnher, Majda M. (2011). “Magnetic resonance imaging spectrum of medulloblastoma”. Neuroradiology. 53 (6): 387–396. doi:10.1007/s00234-010-0829-8. ISSN 0028-3940.
- ↑ Burger, P. C.; Grahmann, F. C.; Bliestle, A.; Kleihues, P. (1987). “Differentiation in the medulloblastoma”. Acta Neuropathologica. 73 (2): 115–123. doi:10.1007/BF00693776. ISSN 0001-6322.
- ↑ Sathornsumetee S, Rich JN, Reardon DA (November 2007). “Diagnosis and treatment of high-grade astrocytoma”. Neurol Clin. 25 (4): 1111–39, x. doi:10.1016/j.ncl.2007.07.004. PMID 17964028.
- ↑ Pedersen CL, Romner B (January 2013). “Current treatment of low grade astrocytoma: a review”. Clin Neurol Neurosurg. 115 (1): 1–8. doi:10.1016/j.clineuro.2012.07.002. PMID 22819718.
- ↑ Mattle, Heinrich (2017). Fundamentals of neurology : an illustrated guide. Stuttgart New York: Thieme. ISBN 9783131364524.
- ↑ Yuh, E. L.; Barkovich, A. J.; Gupta, N. (2009). “Imaging of ependymomas: MRI and CT”. Child’s Nervous System. 25 (10): 1203–1213. doi:10.1007/s00381-009-0878-7. ISSN 0256-7040.
- ↑ 10.0 10.1 Invalid
<ref>tag; no text was provided for refs named:0 - ↑ Brunel H, Raybaud C, Peretti-Viton P, Lena G, Girard N, Paz-Paredes A, Levrier O, Farnarier P, Manera L, Choux M (September 2002). “[Craniopharyngioma in children: MRI study of 43 cases]”. Neurochirurgie (in French). 48 (4): 309–18. PMID 12407316.
- ↑ Prabhu, Vikram C.; Brown, Henry G. (2005). “The pathogenesis of craniopharyngiomas”. Child’s Nervous System. 21 (8–9): 622–627. doi:10.1007/s00381-005-1190-9. ISSN 0256-7040.
- ↑ Kennedy HB, Smith RJ (December 1975). “Eye signs in craniopharyngioma”. Br J Ophthalmol. 59 (12): 689–95. PMC 1017436. PMID 766825.
- ↑ Ahmed SR, Shalet SM, Price DA, Pearson D (September 1983). “Human chorionic gonadotrophin secreting pineal germinoma and precocious puberty”. Arch. Dis. Child. 58 (9): 743–5. PMID 6625640.
- ↑ Sano, Keiji (1976). “Pinealoma in Children”. Pediatric Neurosurgery. 2 (1): 67–72. doi:10.1159/000119602. ISSN 1016-2291.
- ↑ Baggenstoss, Archie H. (1939). “PINEALOMAS”. Archives of Neurology And Psychiatry. 41 (6): 1187. doi:10.1001/archneurpsyc.1939.02270180115011. ISSN 0096-6754.
Epidemiology and Demographics
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Atypical teratoid rhabdoid tumor comprises approximately 1 – 2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases. The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States. Atypical teratoid rhabdoid tumor is a rare disease that tends to affect the children. The median age at diagnosis is approximately 24 – 30 months. Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.
Epidemiology and Demographics
Incidence
- The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States.[1]
Prevalence
- Atypical teratoid rhabdoid tumor comprises approximately 1 – 2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases.[2]
Age
- Atypical teratoid rhabdoid tumor is a rare disease that tends to affect the children.[3][4]
- However, although rare, atypical teratoid rhabdoid tumor has also been reported in adult patients.[5]
- The median age at diagnosis is approximately 24 – 30 months.[6]
Race
- There is no racial predilection to atypical teratoid rhabdoid tumor.
Gender
- Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.[2]
References
- ↑ Atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 10, 2015
- ↑ 2.0 2.1 Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ Epidemiology of atypical teratoid rhabdoid tumor. Dr Bruno Di Muzio and Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 10, 2015
- ↑ Clinical presentation of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq#link/_113_toc. Accessed on December 16, 2015
- ↑ Udaka, Y. T.; Shayan, K.; Chuang, N. A.; Crawford, J. R. (2013). “Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child”. Case Reports in Oncological Medicine. 2013: 1–4. doi:10.1155/2013/815923. ISSN 2090-6706.
- ↑ Slavc, Irene; Chocholous, Monika; Leiss, Ulrike; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo A.; Dieckmann, Karin; Woehrer, Adelheid; Peters, Christina; Widhalm, Georg; Dorfer, Christian; Czech, Thomas (2014). “Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992-2012”. Cancer Medicine. 3 (1): 91–100. doi:10.1002/cam4.161. ISSN 2045-7634.
Risk Factors
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
There are no established risk factors for atypical teratoid rhabdoid tumor.
Risk Factors
There are no established risk factors for atypical teratoid rhabdoid tumor.
References
Screening
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
There is insufficient evidence to recommend routine screening for atypical teratoid rhabdoid tumor.
Causes
There is insufficient evidence to recommend routine screening for atypical teratoid rhabdoid tumor.
References
Natural History, Complications and Prognosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death. Common complications of atypical teratoid rhabdoid tumor include obstructive hydrocephalus, leptomeningeal dissemination, and recurrence. Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.
Natural History, Complications, and Prognosis
Natural History
- If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death.[1]
Complications
- Common complications of atypical teratoid rhabdoid tumor include:[1][2]
- Obstructive hydrocephalus
- Leptomeningeal dissemination
- Intratumoral hemorrhage
- Recurrence
Prognosis
- Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.[3]
- Patients usually succumb to atypical teratoid rhabdoid tumor between 6 months and 1 year from diagnosis.
- Compared to medulloblastoma, atypical teratoid rhabdoid tumor has a significantly worse prognosis.
- Older age at diagnosis is a favorable prognostic factor for atypical teratoid rhabdoid tumor.
- Poor prognostic factors for atypical teratoid rhabdoid tumor include:[4]
- Germline mutation
- Age < 2 years
- Metastases at diagnosis
- Subtotal resection
- Large tumors
- Recurrence
References
- ↑ 1.0 1.1 Chan KH, Mohammed Haspani MS, Tan YC, Kassim F (2011). “A case report of atypical teratoid/rhabdoid tumour in a 9-year-old girl”. Malays J Med Sci. 18 (3): 82–6. PMC 3216225. PMID 22135607.
- ↑ Udaka, Y. T.; Shayan, K.; Chuang, N. A.; Crawford, J. R. (2013). “Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child”. Case Reports in Oncological Medicine. 2013: 1–4. doi:10.1155/2013/815923. ISSN 2090-6706.
- ↑ Ginn, Kevin F.; Gajjar, Amar (2012). “Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions”. Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ Prognosis of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq. Accessed on December 14, 2015
Diagnosis
Diagnosis
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Treatment
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Case Studies
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