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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Kalin, A; Merideth, MA; Regier, DS; Blumenthal, GM; Dennis, PA; Stratton, P

Published Date

  • February 2013

Published In

Volume / Issue

  • 121 / 2 Pt 2 Suppl 1

Start / End Page

  • 461 - 464

PubMed ID

  • 23344409

Pubmed Central ID

  • PMC3799979

Electronic International Standard Serial Number (EISSN)

  • 1873-233X


  • eng

Conference Location

  • United States