Department of Digestive Oncology, University Hospital of Toulouse (IUCT Rangueil Larrey), France; Department of Oncology, Toulouse Cancer Center (IUCT - Oncopole), France.
Department of Oncology, Toulouse Cancer Center (IUCT - Oncopole), France; OncoSarc, INSERM U1037, Toulouse Cancer Research Center (CRCT), France.
Crit Rev Oncol Hematol. 2023 Aug;188:104055. doi: 10.1016/j.critrevonc.2023.104055. Epub 2023 Jun 8.
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.
林奇综合征(LS)是一种遗传倾向,可导致结直肠和非结直肠肿瘤,如子宫内膜、上尿路、小肠、卵巢、胃、胆管癌和胶质母细胞瘤。尽管 LS 与肉瘤并无经典关联,但越来越多的文献表明 LS 患者可能会发生肉瘤。本文献系统回顾共纳入 44 项研究(N=95),涉及发生肉瘤的 LS 患者。似乎大多数肉瘤发生于 MSH2 种系突变(57%)的患者中,表现出 dMMR(81%)或 MSI(77%)表型,与其他 LS 肿瘤相似。尽管未分化多形性肉瘤(UPS)、平滑肌肉瘤和脂肪肉瘤仍然是最常见的组织学亚型,但报告的横纹肌肉瘤比例更高(10%,尤其是多形性横纹肌肉瘤)。需要进一步的研究来更好地描述这一亚群。