Prevalence of Mismatch Repair Deficiency in Advanced Solid Tumors (Colorectal Cancer and Non-Colorectal Cancer) in One Mexican Institution.

IF 3 3区 医学 Q2 HEALTH CARE SCIENCES & SERVICES Journal of Personalized Medicine Pub Date : 2024-12-13 DOI:10.3390/jpm14121152
Rita Dorantes-Heredia, Daniel Motola-Kuba, Ixel Escamilla-López, Eduardo Téllez-Bernal, Emilio Conde-Flores, Daniel Escalera-Santamaría, Emilio Medina-Ceballos, José Ruiz-Morales, Elena Dorokhova, Lucia Edith Flores-García, Gabriela Lugo, Georgina Del C Filio-Rodríguez
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Abstract

Background/Objectives: Mismatch repair (MMR) status is an important prognostic and predictive indicator in cancer, distinguishing proficient (pMMR) tumors from deficient (dMMR) ones. This study aimed to determine the prevalence of dMMR in colorectal (CRC) and selected non-CRC solid tumors (gastric, esophageal, and endometrial cancers). Methods: This retrospective study was conducted at a private health institution in Mexico City, analyzing patients diagnosed with colorectal, gastric, esophageal, or endometrial cancer from January 2017 to December 2020. dMMR prevalence was assessed using available status information and tissue samples for immunohistochemistry (IHC). Data were analyzed via SPSS, presenting results in frequencies and percentages. Results: Most solid tumors exhibited MSH2, MSH6, and MLH1 expression above 90%, with slightly lower levels in endometrial cancer. Esophageal cancer showed 100% pMMR. dMMR prevalence was found to be 12.7% for CRC, 8.3% for gastric, and 18.5% for endometrial cancers. Prevalence rates were similar across genders (11.1% in women and 12.9% in men), with the highest prevalence in the 41-50 age group (20%) and the lowest in the 31-40 age group (7.7%). Conclusions: This study offers valuable insights into the frequency of dMMR mutations in a cohort of the Mexican population, providing a basis for further research on their prevalence in Mexico.

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错配修复缺陷在晚期实体肿瘤(结直肠癌和非结直肠癌)中的流行
背景/目的:错配修复(MMR)状态是一项重要的癌症预后和预测指标,可区分熟练(pMMR)肿瘤和缺陷(dMMR)肿瘤。本研究旨在确定dMMR在结直肠癌(CRC)和部分非结直肠癌实体瘤(胃癌、食管癌和子宫内膜癌)中的患病率。方法:本回顾性研究在墨西哥城的一家私人医疗机构进行,分析了2017年1月至2020年12月诊断为结直肠癌、胃癌、食管癌或子宫内膜癌的患者。使用可用状态信息和免疫组化(IHC)组织样本评估dMMR患病率。数据通过SPSS进行分析,以频率和百分比表示结果。结果:大多数实体瘤的MSH2、MSH6和MLH1表达量均在90%以上,子宫内膜癌表达量略低。食管癌为100% pMMR。dMMR患病率在结直肠癌中为12.7%,在胃癌中为8.3%,在子宫内膜癌中为18.5%。不同性别的患病率相似(女性11.1%,男性12.9%),41-50岁年龄组患病率最高(20%),31-40岁年龄组最低(7.7%)。结论:本研究对墨西哥人群中dMMR突变的频率提供了有价值的见解,为进一步研究其在墨西哥的流行情况提供了基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Personalized Medicine
Journal of Personalized Medicine Medicine-Medicine (miscellaneous)
CiteScore
4.10
自引率
0.00%
发文量
1878
审稿时长
11 weeks
期刊介绍: Journal of Personalized Medicine (JPM; ISSN 2075-4426) is an international, open access journal aimed at bringing all aspects of personalized medicine to one platform. JPM publishes cutting edge, innovative preclinical and translational scientific research and technologies related to personalized medicine (e.g., pharmacogenomics/proteomics, systems biology). JPM recognizes that personalized medicine—the assessment of genetic, environmental and host factors that cause variability of individuals—is a challenging, transdisciplinary topic that requires discussions from a range of experts. For a comprehensive perspective of personalized medicine, JPM aims to integrate expertise from the molecular and translational sciences, therapeutics and diagnostics, as well as discussions of regulatory, social, ethical and policy aspects. We provide a forum to bring together academic and clinical researchers, biotechnology, diagnostic and pharmaceutical companies, health professionals, regulatory and ethical experts, and government and regulatory authorities.
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