Mismatch repair deficiency testing for immune checkpoint inhibitor therapy in genitourinary malignancies.

IF 2.4 3区医学 Q3 ONCOLOGY

Urologic Oncology-seminars and Original Investigations Pub Date : 2025-03-04 DOI:10.1016/j.urolonc.2025.02.005

Leonid M Yermakov, Regina Kwon, Eric Q Konnick

引用次数: 0

Abstract

DNA mismatch repair (MMR) proteins maintain genomic stability, and their deficiency (dMMR) results in hypermutability and microsatellite instability. The U.S. Food and Drug Administration (FDA) approved the immune checkpoint inhibitor pembrolizumab for use in any dMMR cancer but did not provide guidance regarding dMMR detection. This review examines laboratory methods (immunohistochemistry, polymerase chain reaction, and next-generation sequencing) for dMMR detection, emphasizing their sensitivity, specificity, and limitations. Using the current literature, we outline considerations for when to test and which method to use when assessing MMR status in genitourinary cancers.

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免疫检查点抑制剂治疗泌尿生殖系统恶性肿瘤的错配修复缺陷检测。

DNA错配修复（DNA mismatch repair， MMR）蛋白维持基因组的稳定性，而它们的缺失（dMMR）导致基因组的超易变性和微卫星不稳定性。美国食品和药物管理局（FDA）批准了免疫检查点抑制剂pembrolizumab用于任何dMMR癌症，但没有提供dMMR检测的指导。本文综述了dMMR检测的实验室方法（免疫组织化学、聚合酶链反应和下一代测序），强调了它们的敏感性、特异性和局限性。利用目前的文献，我们概述了在评估生殖泌尿系统癌的MMR状态时何时检测和使用哪种方法的考虑因素。

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

Urologic Oncology-seminars and Original Investigations 医学-泌尿学与肾脏学

CiteScore

4.80

自引率

3.70%

发文量

297

审稿时长

7.6 weeks

期刊介绍： Urologic Oncology: Seminars and Original Investigations is the official journal of the Society of Urologic Oncology. The journal publishes practical, timely, and relevant clinical and basic science research articles which address any aspect of urologic oncology. Each issue comprises original research, news and topics, survey articles providing short commentaries on other important articles in the urologic oncology literature, and reviews including an in-depth Seminar examining a specific clinical dilemma. The journal periodically publishes supplement issues devoted to areas of current interest to the urologic oncology community. Articles published are of interest to researchers and the clinicians involved in the practice of urologic oncology including urologists, oncologists, and radiologists.