Crispens Marta Ann
Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, Tennessee.
Clin Colon Rectal Surg. 2012 Jun;25(2):97-102. doi: 10.1055/s-0032-1313780.
Lynch syndrome (LS) is an autosomal dominant familial cancer risk syndrome that occurs due to a germline mutation in one of several mismatch repair genes and is associated with an increased risk of colorectal, endometrial, and ovarian cancer. The risk of endometrial cancer equals or exceeds that of colorectal cancer in women with LS. The diagnosis of gynecologic cancer precedes that of colorectal cancer in over half of women with metachronous gynecologic and colon cancers, making gynecologic cancer a "sentinel cancer" for LS. There are no studies addressing the effectiveness or safety of chemoprevention for women with LS. Surveillance with gynecologic examination including assessment of symptoms, transvaginal pelvic ultrasonography, endometrial biopsy, and CA125 tumor marker assessment can be offered, but has not been shown to improve outcomes for these patients. Prophylactic hysterectomy with bilateral salpingo-oophorectomy performed after the completion of childbearing may be offered for gynecologic cancer prevention.
林奇综合征（LS）是一种常染色体显性遗传性家族性癌症风险综合征，由几种错配修复基因之一的种系突变引起，与结直肠癌、子宫内膜癌和卵巢癌风险增加相关。在患有林奇综合征的女性中，子宫内膜癌的风险等于或超过结直肠癌。在超过半数患有异时性妇科和结肠癌的女性中，妇科癌症的诊断先于结直肠癌，这使得妇科癌症成为林奇综合征的“哨兵癌”。目前尚无针对林奇综合征女性化学预防有效性或安全性的研究。可提供包括症状评估、经阴道盆腔超声检查、子宫内膜活检和CA125肿瘤标志物评估在内的妇科检查监测，但尚未证明这能改善这些患者的预后。对于预防妇科癌症，可在完成生育后进行预防性子宫切除及双侧输卵管卵巢切除术。
