Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.
BACKGROUND
Cowden syndrome is an autosomal-dominant condition associated with mutations in the tumor suppressor gene PTEN. Gynecologic malignancies are common with a 5-10% risk of endometrial cancer and 25-50% risk of breast cancer.


METHODS
A 37-year-old woman with a history of breast cancer, other neoplasms, and multiple skin lesions was diagnosed with Cowden syndrome after a germline PTEN mutation was identified. The endometrium had high glucose uptake on positron emission tomography scan and was irregularly thickened on ultrasonography; biopsy revealed endometrial polyps and simple hyperplasia. Fifteen months later, hysteroscopy again confirmed numerous benign endometrial polyps.


CONCLUSIONS
Recurrent, multiple endometrial polyps portend a high risk of endometrial cancer in women with Cowden syndrome. Monitoring for malignancy and consideration of hysterectomy after childbearing is completed is warranted.
University College London Hospitals, London, United Kingdom; the Medical Genetics Branch, National Human Genome Research Institute, the Intramural Office of Rare Diseases, Office of the Director, the Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, and the Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland; and Children's National Medical Center, Department of Pediatrics, Washington, DC.
Asli
A
Kalin
Melissa A
MA
Merideth
Debra S
DS
Regier
Gideon M
GM
Blumenthal
Phillip A
PA
Dennis
Pamela
P
Stratton
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000601:surgery*; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D005260:Female; D059247:Fertility Preservation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000601:surgery*; D006689:Hodgkin Disease / Q000150:complications; D006801:Humans; D051059:PTEN Phosphohydrolase / Q000235:genetics; D011127:Polyps / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D013964:Thyroid Neoplasms / Q000235:genetics / Q000601:surgery
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human