Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer

Abstract

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.

Case: 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.

Conclusion: 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.

Trial registration: ClinicalTrials.gov NCT00971789.

Conflict of interest statement

Financial Disclosure

The authors did not report any potential conflicts of interest.

Figures

Fig. 1

Multiple polyps seen on hysteroscopic view of the uterus. Kalin. Cowden Syndrome, Polyps, and Breast Cancer. Obstet Gynecol 2013.