Management of Reproductive Health in Cowden Syndrome Complicated by Endometrial Polyps and Breast Cancer
| Autor: | Phillip A. Dennis, Gideon M. Blumenthal, Debra S Regier, Asli Kalin, Melissa A. Merideth, Pamela Stratton |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Gynecology
Oncology medicine.medical_specialty education.field_of_study Tumor suppressor gene biology business.industry Endometrial cancer Population Macrocephaly Obstetrics and Gynecology Cowden syndrome medicine.disease Breast cancer Internal medicine medicine Endometrial Polyp biology.protein PTEN medicine.symptom business education |
| Zdroj: | Obstetrics & Gynecology. 121:461-464 |
| ISSN: | 0029-7844 |
| Popis: | Cowden syndrome is an autosomal-dominant condition characterized by hamartomas arising from all three embryonic layers and an increased lifetime risk of developing several types of cancer.1 The prevalence of Cowden syndrome is thought to be at least one in 200,000. Eighty percent of cases arise from a germline mutation in the PTEN tumor suppressor gene located on chromosome 10q23.3.1 PTEN is an important tumor suppressor gene because it negatively regulates signaling through the PI3K/Akt pathway that normally stimulates cellular growth, proliferation, and migration. PTEN loss may also promote tumorigenesis through other mechanisms because it has been described to stabilize chromosomes, facilitate DNA repair, and stabilize cell cycle functions.2 Common clinical findings of Cowden Syndrome include macrocephaly, mucocutaneous lesions, and cancers of the breast, endometrium, and thyroid (Table 1). The lifetime risk for endometrial cancer is 5–10% and breast cancer is 25–50% in women with Cowden syndrome, compared with a risk in the general population of 2–4% and 12–13%, respectively.1 These risks, together with its heavy female preponderance, make gynecologists central in the management of patients with Cowden syndrome. Surveillance for endometrial cancer and treatment of endometrial polyps in women with Cowden syndrome and a history of breast cancer is a critical aspect of their care (Table 2). We present a case of a 37-year-old woman with a history of breast cancer at an early age that was diagnosed with Cowden syndrome and found to have recurrent endometrial polyps and hyperplasia. Table 1 International Cowden Consortium Diagnostic Criteria Table 2 Breast and Endometrial Cancer Screening Guidelines in Cowden Syndrome Advocated by the National Comprehensive Screening Network 2007 |
| Databáze: | OpenAIRE |
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