Cowden syndrome diagnostic study of choice

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

Overview

Biopsy is the gold standard and definitive test for diagnosis of cowden syndrome. The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria which include Pilarski et al diagnostic criteria.

Diagnostic Study of Choice

Biopsy of the skin lesions, is the gold standard test for the diagnosis of cowden syndrome.^[1]
Biopsy of the trichilemmomas (≥3, at least one biopsy proven) is one of the gold standard test for the diagnosis of cowden syndrome.
Biopsy of the core biopsy of the breasts is the gold standard test for the diagnosis of breast cancer cowden syndrome.^[2]
Biopsy of the oral papillomas particularly on tongue and gingiva, is one of the diagnostic study of choice.

Diagnosis

Diagnostic Criteria

The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria, which include:

Pilarski et al diagnostic criteria:

Pilarski et al diagnostic criteria is proposed by National Comprehensive Cancer Network (NCCN) which include^[3]^[4]^[5]
Diagnosis require^[6]
- Any two major positive criteria symptoms or
- One major and two minor positive criteria symptoms or
- Three minor positive criteria symptoms

Major criteria^[7]	Minor criteria^[8]
Macrocephaly (occipital frontal circumference ≥97th percentile) Breast cancer Thyroid cancer Endometrial carcinoma Gastrointestinal hamartomas(ganglioneuromas) Penile pigmentation	Autism spectrum disorders Intellectual disability (IQ ≤75) Colon cancer Esophageal glycogenic acanthosis (≥3) Fibromas Uterine fibroids Genitourinary tumors(renal cell carcinoma) Genitourinary malformation Glycogenic acanthosis of the esophagus Testicular lipomatosis Vascular anomalies Thyroid cancer

Pathognomonic criteria

Mucocutaneous lesions which include:^[9]
- Trichilemmomas
- Acral keratoses
- Papillomatous lesions
- Mucosal lesions

References

↑ Gosein, Maria Angela; Narinesingh, Dylan; Nixon, Cemonne Ann-Alicia Celeste; Goli, Sanjeeva Reddy; Maharaj, Paramanand; Sinanan, Alexander (2016). “Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature”. BMC Research Notes. 9 (1). doi:10.1186/s13104-016-2195-z. ISSN 1756-0500.
↑ Hu, Zishuo Ian; Bangiyev, Lev; Seidman, Roberta J.; Cohen, Jules A. (2015). “Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome”. Case Reports in Oncological Medicine. 2015: 1–4. doi:10.1155/2015/546297. ISSN 2090-6706.
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). “Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria”. J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.
↑ Mester JL, Moore RA, Eng C (2013). “PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?”. Oncologist. 18 (10): 1083–90. doi:10.1634/theoncologist.2013-0174. PMC 3805149. PMID 24037976.
↑ Ngeow J, Sesock K, Eng C (August 2017). “Breast cancer risk and clinical implications for germline PTEN mutation carriers”. Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). “Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria”. JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.

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[GoseinNarinesingh2016-1] Gosein, Maria Angela; Narinesingh, Dylan; Nixon, Cemonne Ann-Alicia Celeste; Goli, Sanjeeva Reddy; Maharaj, Paramanand; Sinanan, Alexander (2016). “Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature”. BMC Research Notes. 9 (1). doi:10.1186/s13104-016-2195-z. ISSN 1756-0500.

[HuBangiyev2015-2] Hu, Zishuo Ian; Bangiyev, Lev; Seidman, Roberta J.; Cohen, Jules A. (2015). “Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome”. Case Reports in Oncological Medicine. 2015: 1–4. doi:10.1155/2015/546297. ISSN 2090-6706.

[pmid203016612-3] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)

[pmid24136893-4] Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). “Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria”. J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.

[pmid24037976-5] Mester JL, Moore RA, Eng C (2013). “PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?”. Oncologist. 18 (10): 1083–90. doi:10.1634/theoncologist.2013-0174. PMC 3805149. PMID 24037976.

[pmid26700035-6] Ngeow J, Sesock K, Eng C (August 2017). “Breast cancer risk and clinical implications for germline PTEN mutation carriers”. Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.

[pmid203016613-7] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)

[pmid203016614-8] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)

[PilarskiBurt2013-9] Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). “Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria”. JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.

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