目的 探讨具有POLE致病性突变子宫内膜癌(EC)的临床病理及分子特征.方法 选取179例EC患者,根据POLE基因突变、错配修复(MMR)蛋白表达及p53表达/TP53突变进行分子分型,分析POLE mut型EC的临床病理及分子特征.结果 POLE mut20例,MMRd48例,NSMP 90例,p53 abn 21例.POLE mut EC多为FIGOⅠ期(17/20),中-低分化子宫内膜样癌(EEC)(13/20)、局限于内膜/浅肌层(17/20)、肿瘤浸润性淋巴细胞(TILs)显著(17/20)、无/局灶(LVSI)(18/20)、无淋巴结转移(19/20).4个亚组间临床病理特征的差异均有统计学意义(P＜0.05).POLE mut型预后最好,具有多重分类特征的病例预后更接近POLE mut型.结论 POLE mut EC提示着较高的组织学分级,较早的临床分期及较好的预后;POLE mut可继发dMMR/MSI-H表型及p53/TP53异常,应归类为POLE mut型.
Clinicopathological and molecular features of endometrial carcinoma with POLE pathogenic mutations
Objective To investigate the clinicopathological and molecular features of endometrial carcinoma with POLE pathogenic mutations.Methods One hundred and seventy-nine cases of endometrial carcinoma(EC)were selected.According to the POLE gene mutation status,mismatch repair(MMR)protein expression and p53 expression/TP53 mutation,all cases were divided into four molecular subtypes.This study focused on analyzing the clinicopathological and molecular features of POLE mut type.Results Twenty cases were POLE mut type,48 were MMRd type,90 were NSMP type,and 21 were p53 abn type.POLE mut type was mostly FIGO stage Ⅰ(17/20),moderately-poorly differentiated EC(13/20),limited to endometrium or superficial muscle layer(17/20),significant tumor infiltrating lymphocytes(TIL)(17/20),no or focal LVSI(18/20),without lymph node metastasis(19/20).All clinicalpathological features were statistically different among the 4 subgroups.Survival analysis showed that POLE mut had the best prognosis.The prognosis(PFS)of cases with multiple classification characteristics was closer to that of POLE mut type.Conclusion POLE mut EC often indicates higher histological grade,earlier clinical stage and better prognosis;dMMR/MSI-H phenotype and p53/TP53 abnormal can be secondary to POLE pathogenic mutations,and its clinicopathological and prognostic features are similar to POLE mut type.
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