Management of Reproductive Health in Cowden Syndrome Complicated by Endometrial Polyps and Breast Cancer

Authors:
  • AKAsli Kalin
    Asli Kalin
  • MMMelissa A. Merideth
    Melissa A. Merideth
  • DRDebra S. Regier
    Debra S. Regier
  • GBGideon M. Blumenthal
    Gideon M. Blumenthal
  • PDPhillip A. Dennis
    Phillip A. Dennis
  • PSPamela Stratton
    Pamela Stratton
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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. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, www.clinicaltrials.gov , NCT00971789.

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