Cowden syndrome diagnostic study of choice
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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]
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Major criteria[7] |
Minor criteria[8] |
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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.