Tumor Mutational Burden Assay Validation and Reporting
Testing
Reporting and Publication
Laboratories should report the sequencing mode (tumor-germline paired or somatic only) used by the TMB assay. If somatic-only sequencing is performed, filter settings used to remove common population variants should be provided or made available upon request.
Recommendation Grading
Disclaimer
Overview
Title
Tumor Mutational Burden Assay Validation and Reporting
Authoring Organization
Association for Molecular Pathology
Endorsing Organizations
College of American Pathologists
Society for Immunotherapy of Cancer
Publication Month/Year
June 5, 2024
Last Updated Month/Year
September 11, 2024
Document Type
Guideline
Country of Publication
US
Document Objectives
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, College of American Pathologists, and 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 post-analytical factors of TMB analysis, and emphasize the relevance of comprehensive methodological descriptions to allow comparability between assays.
Inclusion Criteria
Male, Female, Adolescent, Adult, Child, Older adult
Health Care Settings
Ambulatory, Laboratory services, Outpatient
Intended Users
Laboratory technician, nurse, nurse practitioner, physician, physician assistant
Scope
Diagnosis, Assessment and screening, Management
Diseases/Conditions (MeSH)
D014408 - Biomarkers, Tumor
Keywords
Next-Generation Sequencing, tumor mutational burden, tumor assay
Source Citation
Larissa V. Furtado, Carlo Bifulco, Daniel Dolderer, Susan J. Hsiao, Benjamin R. Kipp, Neal I. Lindeman, Lauren L. Ritterhouse, Robyn L. Temple-Smolkin, Ahmet Zehir, Jonathan A. Nowak, Recommendations for Tumor Mutational Burden Assay Validation and Reporting: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, and Society for Immunotherapy of Cancer, The Journal of Molecular Diagnostics, 2024, ISSN 1525-1578, https://doi.org/10.1016/j.jmoldx.2024.05.002
Supplemental Methodology Resources
Data Supplement, Data Supplement, Data Supplement, Data Supplement, Data Supplement