研究动态
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一个表现为连续发生13个间接恶性肿瘤的Lynch综合征患者的MSH2基因的新突变。

A Novel Mutation of MSH2 Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies.

发表日期:2023 Aug 24
作者: Ugne Silinskaite, Edita Gavelienė, Rokas Stulpinas, Ramunas Janavicius, Tomas Poskus
来源: Experimental Hematology & Oncology

摘要:

Lynch综合征(LS),又称遗传性非息肉性结直肠癌(HNPCC),占所有结直肠癌的2-3%。该常染色体显性遗传疾病与子宫内膜、胃、小肠、胰腺、胆道、卵巢、泌尿道、脑和皮肤肿瘤的易感性相关。Lynch综合征由MLH1、MSH2(EPCAM)、MSH6和PMS2基因的突变引起。本文报告了一名70岁女性患者Lynch综合征的病例研究。在30年的时间里,患者因共计13种不同恶性肿瘤接受了多次手术。在第12外显子中,发现该患者携带一种有害致病的MSH2(NM_000251.2)基因变异(突变)c.1774_1775insT。这种变异c.1774_1775insT是一项新的发现,因为它在现有的数据库和文献中尚未被报道。在文献中未发现Lynch综合征患者出现13个间隔性肿瘤的其他案例。
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2-3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the MLH1, MSH2 (EPCAM), MSH6, and PMS2 genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgical procedures for a total of thirteen different malignancies. She was found to have a deleterious pathogenic gene MSH2 (NM_000251.2) variant (mutation) c.1774_1775insT in the 12th exon. This variant, c.1774_1775insT, represents a novel finding, as it has not been previously reported in existing databases or literature. No other case of 13 metachronous tumors in a patient with Lynch syndrome was found in the literature.