Cowden syndrome diagnostic study of choice: Difference between revisions
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== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
* [[Biopsy]] of the [[skin]] [[lesions]], is the gold standard test for the [[diagnosis]] of [[cowden syndrome]]. | |||
* [[Biopsy]] of the [[Trichilemmoma|trichilemmomas]] (≥3, at least one [[biopsy]] proven) is the gold standard test for the [[diagnosis]] of [[cowden syndrome]]. | |||
* [[Biopsy]] of the core [[biopsy]] of the [[Breast|breasts]] is the gold standard test for the [[diagnosis]] of [[cowden syndrome]]. | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 14:47, 13 March 2019
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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
Diagnostic Study of Choice
- Biopsy of the skin lesions, is the gold standard test for the diagnosis of cowden syndrome.
- Biopsy of the trichilemmomas (≥3, at least one biopsy proven) is 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 cowden syndrome.
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[1][2][3]
- Diagnosis require[4]
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Major criteria[5] |
Minor criteria[6] |
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References
- ↑ 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)