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本文引用的文献

1
Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.九种不同肿瘤中错配修复缺陷情况的发生率和分子特征,以及涉及林奇样综合征的种系变异体的鉴定。
Int J Clin Oncol. 2024 Jul;29(7):953-963. doi: 10.1007/s10147-024-02518-y. Epub 2024 Apr 14.
2
Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy: Guideline From the College of American Pathologists in Collaboration With the Association for Molecular Pathology and Fight Colorectal Cancer.错配修复和微卫星不稳定性检测用于免疫检查点抑制剂治疗:美国病理学家学会与分子病理学协会和抗击结直肠癌联盟的指南。
Arch Pathol Lab Med. 2022 Oct 1;146(10):1194-1210. doi: 10.5858/arpa.2021-0632-CP.
3
Real-world data on microsatellite instability status in various unresectable or metastatic solid tumors.各种不可切除或转移性实体瘤中微卫星不稳定性状态的真实世界数据。
Cancer Sci. 2021 Mar;112(3):1105-1113. doi: 10.1111/cas.14798. Epub 2021 Feb 7.
4
FDA Approval Summary: Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors.美国食品药品监督管理局批准摘要:帕博利珠单抗用于治疗微卫星高度不稳定实体瘤。
Clin Cancer Res. 2019 Jul 1;25(13):3753-3758. doi: 10.1158/1078-0432.CCR-18-4070. Epub 2019 Feb 20.
5
Utility of the quasi-monomorphic variation range in unresectable metastatic colorectal cancer patients.不可切除转移性结直肠癌患者准单态变异范围的效用。
Cancer Sci. 2018 Nov;109(11):3411-3415. doi: 10.1111/cas.13774. Epub 2018 Oct 2.
6
Frequency of Defective Mismatch Repair System in a Series of Consecutive Cases of Colorectal Cancer in a National Cancer Center.国家癌症中心一系列连续结直肠癌病例中错配修复缺陷系统的频率
J Gastrointest Cancer. 2018 Sep;49(3):379-384. doi: 10.1007/s12029-018-0132-1.
7
First FDA Approval Agnostic of Cancer Site - When a Biomarker Defines the Indication.美国食品药品监督管理局首次批准与癌症部位无关——当生物标志物确定适应症时。
N Engl J Med. 2017 Oct 12;377(15):1409-1412. doi: 10.1056/NEJMp1709968.
8
Microsatellite Instability: A Predictive Biomarker for Cancer Immunotherapy.微卫星不稳定性:癌症免疫治疗的一种预测性生物标志物。
Appl Immunohistochem Mol Morphol. 2018 Feb;26(2):e15-e21. doi: 10.1097/PAI.0000000000000575.
9
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.错配修复缺陷可预测实体瘤对程序性死亡受体1(PD-1)阻断疗法的反应。
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10
Tissue-Agnostic Drug Development.组织非特异性药物研发
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墨西哥一家机构中晚期实体瘤(结直肠癌和非结直肠癌)错配修复缺陷的患病率

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

作者信息

Dorantes-Heredia Rita, Motola-Kuba Daniel, Escamilla-López Ixel, Téllez-Bernal Eduardo, Conde-Flores Emilio, Escalera-Santamaría Daniel, Medina-Ceballos Emilio, Ruiz-Morales José, Dorokhova Elena, Flores-García Lucia Edith, Lugo Gabriela, Filio-Rodríguez Georgina Del C

机构信息

Departamento de Anatomía Patológica, Médica Sur, Mexico City 14050, Mexico.

Centro Oncológico, Médica Sur, Mexico City 14050, Mexico.

出版信息

J Pers Med. 2024 Dec 13;14(12):1152. doi: 10.3390/jpm14121152.

DOI:10.3390/jpm14121152
PMID:39728065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11678647/
Abstract

: 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). : 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. : 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%). : 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.

摘要

错配修复(MMR)状态是癌症中一项重要的预后和预测指标,可区分错配修复功能完整(pMMR)肿瘤和错配修复功能缺陷(dMMR)肿瘤。本研究旨在确定结直肠癌(CRC)以及选定的非结直肠癌实体瘤(胃癌、食管癌和子宫内膜癌)中dMMR的发生率。:本回顾性研究在墨西哥城的一家私立医疗机构开展,分析了2017年1月至2020年12月期间被诊断为结直肠癌、胃癌、食管癌或子宫内膜癌的患者。使用现有的状态信息和组织样本进行免疫组织化学(IHC)检测来评估dMMR的发生率。通过SPSS对数据进行分析,结果以频率和百分比呈现。:大多数实体瘤中MSH2、MSH6和MLH1的表达率高于90%,子宫内膜癌中的表达水平略低。食管癌的错配修复功能完整率为100%。结直肠癌的dMMR发生率为12.7%,胃癌为8.3%,子宫内膜癌为18.5%。不同性别的发生率相似(女性为11.1%,男性为12.9%),41 - 50岁年龄组的发生率最高(20%),31 - 40岁年龄组的发生率最低(7.7%)。:本研究为墨西哥人群队列中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患病率提供了依据。