title: Endometrial cancer in a 14-year-old girl with Cowden syndrome: a case report.
abstract: 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 grade 1 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah 84132, USA. wdbaker@gmail.com
authors.forename: William David
authors.initials: WD
authors.lastname: Baker
authors.forename: Andrew Patrick
authors.initials: AP
authors.lastname: Soisson
authors.forename: Mark Kane
authors.initials: MK
authors.lastname: Dodson
mesh_terms: D000230:Adenocarcinoma / Q000209:etiology*; D000293:Adolescent; D019943:Amino Acid Substitution; D003111:Colonic Polyps / Q000209:etiology; D016889:Endometrial Neoplasms / Q000209:etiology*; D005260:Female; D005348:Fibrocystic Breast Disease / Q000209:etiology; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human