Journal
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
Volume 39, Issue 4, Pages 876-878Publisher
WILEY
DOI: 10.1111/j.1447-0756.2012.02052.x
Keywords
Cowden syndrome; endometrial cancer; genetics; hereditary cancer syndrome; pediatric gynecology
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The appearance of endometrial cancer in adolescence is uncommon and warrants investigation for an hereditary cancer syndrome. Cowden syndrome is an autosomal dominant cancer syndrome associated with a germline PTEN mutation and increased risk of breast, thyroid, endometrial and colon cancer. In this report we present a case of a 14-year-old nulligravid female diagnosed with grade1 endometrial adenocarcinoma. She subsequently developed fibrocystic breast disease and colon polyps and was diagnosed with Cowden syndrome at age 20. We therefore recommend formal evaluation for Cowden syndrome to be considered when endometrial cancer is diagnosed in adolescence.
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