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

ABSTRACT:

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

SUBMITTER: Vasovcak P 

PROVIDER: S-EPMC3065398 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature