Abstract：
Lynch syndrome (LS) is a genetic predisposition leading to colorectal and non-colorectal tumors such as endometrial, upper urinary tract, small intestine, ovarian, gastric, biliary duct cancers and glioblastoma. Though not classically associated with LS, growing literature suggests that sarcomas might develop in patients with LS. This systematic review of literature identified 44 studies (N = 95) of LS patients who developed sarcomas. It seems that most sarcomas developed in patients with a germline mutation of MSH2 (57 %) exhibit a dMMR (81 %) or MSI (77 %) phenotype, as in other LS-tumors. Although undifferentiated pleomorphic sarcoma (UPS), leiomyosarcoma, and liposarcoma remain the most represented histologic subtype, a higher proportion of rhabdomyosarcoma (10 %, especially pleomorphic rhabdomyosarcoma) is reported. Further studies are required to better characterize this sub-population.
摘要：
Lynch综合征（LS）是导致结直肠和非结肠直肠肿瘤如子宫内膜的遗传易感性，上尿路,小肠,卵巢,胃,胆管癌和胶质母细胞瘤。虽然与LS没有经典联系，越来越多的文献表明，肉瘤可能在LS患者中发生。对文献的系统回顾确定了44项（N=95）发生肉瘤的LS患者的研究。似乎在具有MSH2（57％）种系突变的患者中发生的大多数肉瘤表现出dMMR（81％）或MSI（77％）表型，与其他LS肿瘤一样。虽然未分化多形性肉瘤（UPS），平滑肌肉瘤,脂肪肉瘤仍然是最具代表性的组织学亚型，横纹肌肉瘤的比例更高(10%，特别是多形性横纹肌肉瘤）。需要进一步的研究来更好地表征这个亚群。
