新疆地区2718例子宫内膜癌构成及临床病理特征

Composition and clinicopathological characteristics of endometrial carcinoma:a retrospective study of 2718 cases in Xinjiang

目的探讨新疆地区子宫内膜癌(endometrial cancer,EC)的流行病学特点及不同方法检测微卫星稳定性结果存在差异的原因。方法收集2011~2021年2718例EC流行病学资料,采用免疫组化EnVision法检测4种错配修复(mismatch repair,MMR)蛋白表达,分析其与临床病理特征的关系;采用多重荧光PCR-毛细管电泳法检测微卫星不稳定(microsatellite instability,MSI)的一致性,分析两种检测结果不一致的原因。结果2718例EC好发于51~60岁,11年间患者平均年龄和中位年龄分别下降1.3、3岁;组织学类型以子宫内膜样癌G1级为主,其他类型较少见。MMR蛋白表达总缺失率为24.2%,其中MLH1、MSH2、MSH6和PMS2表达缺失率分别为12.7%、5.5%、6.9%和15.2%;dMMR组与pMMR组在患者年龄、组织学类型、FIGO分期、脉管内瘤栓及淋巴结转移等参数,差异均有统计学意义(P<0.05);MSH2在维吾尔族和哈萨克族中缺失比例最高,MSH6缺失易发生于>50岁(P=0.033)、维吾尔族和哈萨克族(P=0.017)、有Lynch综合征相关家族史(P=0.002)的患者;PMS2缺失易发生于G2级(P=0.01)、FIGO分期Ⅲ期(P=0.001)、妊娠次数≥1次(P=0.026)的患者,且更易出现脉管内癌栓(P=0.001)和淋巴结转移(P=0.004)。多重荧光PCR-毛细管电泳法首次检测与免疫组化一致率为78.9%(15/19),更换蜡块重复检测后,两种方法的符合率达94.7%(18/19)。结论EC发病年龄逐渐年轻化,MSI状态可能存在瘤内异质性,不同方法检测EC微卫星稳定性的结果存在差异,需进行准确判读。

Purpose To observe the epidemiological characteristics of endometrial carcinoma(EC)in Xinjiang and to investigate the reason for the difference of micosatellite stability test results in EC.Methods The epidemiological data of 2718 cases of EC by 2011-2021 years were collected,and 4 types of mismatch repair(MMR)proteins were examined by immunohistochemistry EnVision step,the relationship between MMR proteins expression with clinical and pathological features was analyzed.The consistency of microsatellite instability(MSI)was detected using PCR capillary electrophoresis and the reasons for the inconsistency between the two detection results were analyzed.Results 2718 EC mainly occurred in the age of 51 to 60 years old,and the average ages and median ages at 11 years decreased by 1.3 years and 3 years respectively.G1 of endometrioid carcinoma was the main histological type,while other types were rare.Among the analyzed 656 samples,24.2%(159/656)tumors showed dMMR,the loss expression of MLH1,MSH2,MSH6 and PMS2 was 12.7%,5.5%,6.9%and 15.2%,respectively.There were significant differences in patient age,histological type,FIGO stage,intravascular tumor thrombus and lymph node metastasis between dMMR and pMMR groups(P<0.05).The loss expression of MSH2 were most prevalent in Uygur and Kazakh ethnic groups.MSH6 deletion was more likely to occur in patients over 50 years old(P=0.033),Uygur and Kazakh(P=0.017),and with family history of Lynch syndrome(P=0.002).Deletion of PMS2 was more likely to occur in patients with histological grade 2(P=0.01),FIGO stagingⅢ(P=0.001),pregnancy≥1(P=0.026),and more likely to have intravascular tumor thrombus(P=0.001)and lymph node metastasis(P=0.004).The consistency between PCR capillary electrophoresis and immunohistochemistry was 78.9%(15/19)for the first test and 94.7%(18/19)for both methods after changing the wax block to repeat test.Conclusion The onset age of EC is gradually younger,and there may be heterogeneity in MSI status within the tumor.The results of detecting EC microsatellite stability using different methods may differ,and accurate interpretation is necessary.