考登综合征合并子宫内膜息肉和乳腺癌患者的生殖健康管理。
Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.
机构信息
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.
出版信息
Obstet Gynecol. 2013 Feb;121(2 Pt 2 Suppl 1):461-464.
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.
背景
Cowden 综合征是一种常染色体显性遗传疾病，与肿瘤抑制基因 PTEN 的突变有关。妇科恶性肿瘤很常见，子宫内膜癌的风险为 5-10%，乳腺癌的风险为 25-50%。
病例
一名 37 岁的女性，有乳腺癌、其他肿瘤和多种皮肤病变病史，在发现种系 PTEN 突变后被诊断为 Cowden 综合征。正电子发射断层扫描显示子宫内膜葡萄糖摄取增加，超声显示子宫内膜不均匀增厚；活检显示子宫内膜息肉和单纯性增生。15 个月后，宫腔镜再次证实有许多良性子宫内膜息肉。
结论
在 Cowden 综合征女性中，反复出现、多发的子宫内膜息肉预示着子宫内膜癌的高风险。在完成生育后，有必要监测恶性肿瘤并考虑子宫切除术。
Zotero 插件