The research progress of Lynch syndrome-associated endometrial cancers

Abstract

Lynch syndrome (LS) is an autosomal dominant condition caused by a mutation in the mismatch repair genes (MMR). Endometrial cancer (EC) is the most common extra-colonic cancers of LS Ⅱ type. Among the female members of LS family with the MMR gene mutation, EC has an overall lifetime risk more than 35%. LS-associated EC is more likely present as the clinical pathological characteristics of early age of onset, endometrioid adenocarcinoma, lower grade, lower uterine segment involvement, and better prognosis. LS patients with family history and early age of onset should be performed with a combined screening and genetic testing, while high-risk patients should be taken clinical monitoring methods as endometrial biopsy. Oral contraceptives may be reasonable chemopreventive agents in the patients with LS. Although prophylactic hysterectomy with bilateral salpingo-oophorectomy is an effective strategy to prevent EC in women with LS, preoperative counseling should address the trade-offs between the reduction in the risk of cancer, and the risks and side effects of surgery. The patients need hormone replacement therapy after surgery. Key words: Colorectal neoplasms, hereditary nonpolyposis/DI/CO; Endometrial neoplasms/CO/PA/DI/PC; Review