Universal Mismatch Repair Protein Screening in Upper Tract Urothelial Carcinoma A Validation Study With Comparison to Colorectal and Endometrial Adenocarcinoma
Universal Mismatch Repair Protein Screening in Upper Tract Urothelial Carcinoma A Validation Study With Comparison to Colorectal and Endometrial Adenocarcinoma
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DOI：
10.1093/ajcp/aqaa100
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发表时间：
2020-12-01
影响因子：
3.5
通讯作者：
Smith, Steven Christopher
中科院分区：
文献类型：
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作者：
Gayhart, Matthew George;Johnson, Nicole;Smith, Steven Christopher
目的：一些研究者推荐用错配修复（MMR）蛋白免疫组织化学（IHC）对上尿路上皮癌（UTUC）进行Lynch综合征的普遍筛查。在此，我们回顾性地评估了这一建议，通过模拟其在回顾性、非选择的UTUCs队列中的表现，并与结肠直肠癌和子宫内膜腺癌的既定设置进行比较。方法：我们对74例UTUC患者进行MMR蛋白（MLH1、MSH2、MSH6和PMS2） IHC完全缺失的评估，并将临床和病理因素制成表格。将同一机构的结直肠癌和子宫内膜腺癌的MMR结果列成表格进行比较。结果：在我们的UTUC队列中，我们观察到12%的患者中至少有一个MMR蛋白缺失（3个MSH2/MSH6, 3个MSH6, 1个MLH1/PMS2, 2个PMS2）。在这9例病例中（7例男性，2例女性，中位年龄67岁，5例伴有结直肠腺癌），至少3例（占总队列的4%）被证实为Lynch综合征。总体而言，UTUC的MMR损失与结直肠癌（11%，471例中有50例）和子宫内膜腺癌（12%，101例中有12例）相当。结论：在UTUC中观察到的MMR损失率与在结直肠癌和子宫内膜腺癌的既定环境中相当，支持在我们机构和其他机构进行普遍的UTUC筛查。
Objectives: Universal screening of upper tract urothelial carcinoma (UTUC) for Lynch syndrome by mismatch repair (MMR) protein immunohistochemistry (IHC) has been recommended by some investigators. Herein, we assess this recommendation retrospectively by simulating its performance on a retrospective, unelected cohort of UTUCs, with comparison to the established setting of colorectal and endometrial adenocarcinoma.Methods: We assessed for complete loss of MMR protein (MLH1, MSH2, MSH6, and PMS2) IHC in 74 consecutive cases of UTUC and then tabulated clinical and pathologic factors. MMR findings ,from same-institution colorectal and endometrial adenocarcinomas were tabulated for comparison.Results: We observed loss of at least one MMR protein in 12% in our UTUC cohort (three MSH2/MSH6, three MSH6 only, one MLH1/PMS2, and two PMS2 only). Of these nine cases (seven males, two females, median age 67 years, five associated with colorectal adenocarcinoma), at least three (4% of the overall cohort) proved to be Lynch syndrome. Overall, MMR loss in UTUC was comparable to colorectal (11%; 50 of 471 cases) and endometrial (12%; 12 of 101 cases) adenocarcinomas.Conclusions: The rate of MMR loss observed in UTUC was comparable to that in the established setting of colorectal and endometrial adenocarcinomas, supporting universal UTUC screening at our institution and others.