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Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report

P. Vasovčák, M. Senkeříková, J. Hatlová, A. Křepelová

. 2011 ; 12 () : 38. [pub] 20110315

Language English Country England, Great Britain

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc12027010

BACKGROUND: Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions. CASE PRESENTATION: Here we report on a 58-year-old woman with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign meningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X). CONCLUSION: This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors.

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