The Tumor Mutational Burden Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
The Tumor Mutational Burden Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, Providence Portland Medical Center, Portland, Oregon.
J Mol Diagn. 2024 Aug;26(8):653-668. doi: 10.1016/j.jmoldx.2024.05.002. Epub 2024 Jun 6.
Tumor mutational burden (TMB) has been recognized as a predictive biomarker for immunotherapy response in several tumor types. Several laboratories offer TMB testing, but there is significant variation in how TMB is calculated, reported, and interpreted among laboratories. TMB standardization efforts are underway, but no published guidance for TMB validation and reporting is currently available. Recognizing the current challenges of clinical TMB testing, the Association for Molecular Pathology convened a multidisciplinary collaborative working group with representation from the American Society of Clinical Oncology, the College of American Pathologists, and the Society for the Immunotherapy of Cancer to review the laboratory practices surrounding TMB and develop recommendations for the analytical validation and reporting of TMB testing based on survey data, literature review, and expert consensus. These recommendations encompass pre-analytical, analytical, and postanalytical factors of TMB analysis, and they emphasize the relevance of comprehensive methodological descriptions to allow comparability between assays.
肿瘤突变负荷（TMB）已被认为是几种肿瘤类型免疫治疗反应的预测生物标志物。有几个实验室提供 TMB 检测，但不同实验室在 TMB 的计算、报告和解释方面存在显著差异。TMB 标准化工作正在进行中，但目前尚无 TMB 验证和报告的指南。鉴于临床 TMB 检测的当前挑战，美国分子病理学协会召集了一个多学科协作工作组，代表来自美国临床肿瘤学会、美国病理学家学院和癌症免疫治疗学会，审查了围绕 TMB 的实验室实践，并根据调查数据、文献综述和专家共识，为 TMB 检测的分析验证和报告制定了建议。这些建议涵盖了 TMB 分析的分析前、分析中和分析后因素，并强调了全面的方法学描述的相关性，以允许在检测之间进行可比性。
