Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma
Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma
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DOI：
10.21873/cgp.20084
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发表时间：
2018-07-01
影响因子：
2.5
通讯作者：
Coppola, Domenico
中科院分区：
文献类型：
--
作者：
Reveron, Dayana;Lopez, Christian;Coppola, Domenico
背景/目的：微卫星不稳定性 (MSI) 是由涉及错配修复 (MMR) 基因 MLH1、PSM2、MSH2 和 MSH6 的基因改变引起的。 MSI 与散发性 CRC 和林奇综合征有关。该研究的目的是评估波多黎各患者原发性结直肠癌和癌前病变中 MMR 蛋白表达变化的频率。患者和方法：对 84 名波多黎各患者进行回顾性研究，使用组织微阵列和免疫组织化学评估原发性 CRC 和癌前病变中 MMR 蛋白表达变化的频率。结果：6.3% 的腺瘤、9.1% 的高度不典型增生腺瘤和 9.4% 的结肠腺癌中存在 MLH1 和 PMS2 蛋白表达缺失。在 2.4% 的结肠腺癌中发现 MSH2 和 MSH6 蛋白的核染色呈阴性。结论：与之前的报告相比，本研究表明波多黎各人群中 MSI 的发生率较低。 MLH1 突变的较高患病率与之前对西班牙裔社区（包括哥伦比亚、乌拉圭和巴西人群）中蛋白质表达的研究相关。
Background/Aim: Microsatellite instability (MSI) results from genetic alterations involving the mismatch repair (MMR) genes MLH1, PSM2, MSH2, and MSH6. MSI has been implicated in both sporadic CRC and Lynch syndrome. The aim of the study was to assess the frequency of alterations in MMR protein expression in both primary colorectal cancer and precursor lesions among Puerto Rican patients. Patients and Methods: A retrospective study of 84 Puerto Rican patients was performed to assess the frequency of MMR protein expression alterations in both primary CRC and precursor lesions using tissue microarray and immunohistochemistry. Results: The loss of expression of both MLH1 and PMS2 proteins was present in 6.3% of adenomas, 9.1% of adenomas with high-grade dysplasia and 9.4% of colon adenocarcinomas. Negative nuclear staining for both MSH2 and MSH6 proteins was found in 2.4% of colon adenocarcinomas. Conclusion: When compared to prior reports, this study suggests a lower frequency of MSI among the Puerto Rican population. The higher prevalence of MLH1 mutations correlates with previous studies of protein expression among the Hispanic community including Colombian, Uruguay and Brazilian populations.