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 [[skin]] [[lesions]], is the gold standard test for the [[diagnosis]] of [[cowden syndrome]].<ref name="GoseinNarinesingh2016">{{cite journal|last1=Gosein|first1=Maria Angela|last2=Narinesingh|first2=Dylan|last3=Nixon|first3=Cemonne Ann-Alicia Celeste|last4=Goli|first4=Sanjeeva Reddy|last5=Maharaj|first5=Paramanand|last6=Sinanan|first6=Alexander|title=Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature|journal=BMC Research Notes|volume=9|issue=1|year=2016|issn=1756-0500|doi=10.1186/s13104-016-2195-z}}</ref> | ||
* [[Biopsy]] of the [[Trichilemmoma|trichilemmomas]] (≥3, at least one [[biopsy]] proven) is one of the gold standard test for the [[diagnosis]] of [[cowden syndrome]]. | * [[Biopsy]] of the [[Trichilemmoma|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 [[Breast|breasts]] is the gold standard test for the [[diagnosis]] of [[breast cancer]] [[cowden syndrome]]. | * [[Biopsy]] of the core [[biopsy]] of the [[Breast|breasts]] is the gold standard test for the [[diagnosis]] of [[breast cancer]] [[cowden syndrome]]. | ||
Revision as of 14:53, 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
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.
- 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[2][3][4]
- Diagnosis require[5]
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Major criteria[6] |
Minor criteria[7] |
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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.
- ↑ 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)