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目的分析PMS2基因胚系突变结直肠癌患者的免疫组化及微卫星不稳定表达特征。方法对符合AmsterdamⅡ、修订Bethesda标准、微卫星高度不稳定、免疫组化MMR蛋白表达阴性的结直肠癌患者使用二代测序进行MMR基因胚系突变检测。结果共检测出PMS2胚系突变27例,其中致病性突变4例,意义未明突变23例。4例致病性突变均表现为PMS2免疫组化单独表达缺失及高度微卫星不稳定。意义未明突变患者中33.3%(7/21)表现为PMS2表达缺失,52.6%(10/19)表现为高度微卫星不稳定。结论 PMS2基因致病性胚系突变结直肠癌倾向于表现为相应蛋白单独表达阴性。PMS2基因意义未明突变相应的表型多变,致病性分类尚需更进一步资料。
Objective To analyze the immunohistochemistry and microsatellite instability of PMS2 gene mutation in germ-line patients with colorectal cancer. Methods MMR genomic mutations were detected by second-generation sequencing in patients with colorectal cancer who met AmsterdamⅡ, revised Bethesda standard, high degree of microsatellite instability, and negative immunohistochemical MMR protein. Results A total of 27 cases of PMS2 germline mutation were detected, of which 4 were pathogenic mutations and 23 were unknown. Four cases of pathogenic mutations showed PMS2 immunohistochemical expression of single loss and high degree of microsatellite instability. 33.3% (7/21) of the patients with unknown mutations showed the loss of PMS2 expression, and 52.6% (10/19) showed high microsatellite instability. Conclusions PMS2 gene pathogenic germline mutations in colorectal cancer tend to be expressed as the corresponding protein alone expressed negative. The significance of PMS2 gene mutations in the corresponding phenotypic change, pathogenic classification still need further information.