2020, Vol 1 No 2

Muir-Torre综合征伴MSH2基因移码突变：一例罕见病例报道并文献复习

摘要：Muir-Torre综合征是Lynch综合征的一个罕见亚型，以同时具有皮肤和内脏肿瘤为特征。在此，我们报道一例由病理医生首先怀疑并诊断的Muir-Torre综合征这种罕见疾病。患者60岁，老年女性，因腋窝皮肤结节被诊断为基底细胞癌。进一步询问病史，得知该患者曾因阴道残端子宫内膜样癌复发而入院检查。经过对皮肤及阴道肿瘤的组织学观察和错配修复蛋白免疫组化染色后，结果提示可能为Muir-Torre综合征。二代测序检测发现MSH2基因存在一个移码突变。此外，从1998年至2016年，该患者先后罹患结直肠癌、子宫内膜的子宫内膜样癌和皮肤癌，家族中也有5名亲属罹患结直肠癌或胶质瘤。这则病例报道揭示了多学科诊疗、错配修复蛋白和基因检测的重要性，以及在做出Muir-Torre综合征诊断时，还要将详细临床病史纳入考虑。

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Muir-Torre综合征伴MSH2基因移码突变：一例罕见病例报道并文献复习

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