关于错配修复缺失和微卫星不稳定性检测的实验室现行检测实践调研
Current laboratory testing practices for mismatch repair deficiency and microsatellite instability testing: A survey-based review of current laboratory practices
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影响因子:1.9
分区:医学4区 / 病理学3区
发表日期:2025 Jan 28
作者:
Amy L Austin, Russell R Broaddus, Rhona J Souers, Megan E Kane, Ravindra Kolhe, Dylan V Miller, Joel T Moncur, Shakti Ramkissoon, Laura J Tafe, Dimitri G Trembath, Rondell P Graham
DOI:
10.1093/ajcp/aqae094
摘要
旨在描述在使用美国病理学家学会（CAP）MSI/MMR能力验证项目进行检测的实验室中，错配修复（MMR）和微卫星不稳定性（MSI）检测的实践情况，特别是在2022年CAP和分子病理学会（AMP）共同发布MSI/MMR指南之前。本研究回顾了2020年-B MSI/MMR项目附带问卷中，向不同实践背景的542家实验室提供的问卷数据。问卷涵盖检测类型、样本/肿瘤类型以及检查在免疫检查点抑制剂治疗中的临床应用。结果显示，国内实验室进行MSI/MMR检测的频率高于国际实验室（P=0.04），而学术医院/医疗中心的检测频率也高于非医院机构/诊所（P=0.03）。最常用的检测方法是免疫组化，其次是聚合酶链反应和新一代测序。大部分实验室（72.6%；347/478）表示了解免疫检查点抑制剂治疗对于高MSI或MMR缺失结果的患者的应用。结果反映了CAP/AMP指南发布前，实验室在MSI和MMR检测方面的现状，显示不同类型实验室之间存在差异。这强调了达成共识指南的重要性，并为指南实施后的对比提供了基础。© 作者版权所有，2024年牛津大学出版社代表美国临床病理学会出版。商业用途请联系reprints@oup.com申请转载和翻译权，其他权限请通过我们网站上的Permissions链接联系，详情请咨询journals.permissions@oup.com。
Abstract
To describe mismatch repair (MMR) and microsatellite instability (MSI) testing practices in laboratories using the College of American Pathologists (CAP) MSI/MMR proficiency testing programs prior to the 2022 publication of the MSI/MMR practice guidelines copublished by CAP and the Association of Molecular Pathology (AMP).Data from supplemental questionnaires provided with the 2020-B MSI/MMR programs to 542 laboratories across different practice settings were reviewed. Questionnaires contained 21 questions regarding the type of testing performed, specimen/tumor types used for testing, and clinical practices for checkpoint blockade therapy.Domestic laboratories test for MSI/MMR more often than international laboratories (P = .04) and academic hospitals/medical centers test more frequently than nonhospital sites/clinics (P = .03). The most commonly used testing modality is immunohistochemistry, followed by polymerase chain reaction, then next-generation sequencing. Most laboratories (72.6%; 347/478) reported awareness of the use of immune checkpoint inhibitor therapy for patients with high MSI or MMR-deficient results.The results demonstrate the state of MMR and MSI testing in laboratories prior to the publication of the CAP/AMP best practice guidelines, highlighting differences between various laboratory types. The findings indicate the importance of consensus guidelines and provide a baseline for comparison after their implementation.© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.