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
{"title":"Prevalence of Mismatch Repair Deficiency in Advanced Solid Tumors (Colorectal Cancer and Non-Colorectal Cancer) in One Mexican Institution.","authors":"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","doi":"10.3390/jpm14121152","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background/Objectives</b>: 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). <b>Methods</b>: 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. <b>Results</b>: 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%). <b>Conclusions</b>: 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.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 12","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11678647/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Personalized Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/jpm14121152","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEALTH CARE SCIENCES & SERVICES","Score":null,"Total":0}
引用次数: 0
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.
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.