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Related Experiment Video

Updated: Oct 3, 2025

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Tumour mutational burden: an overview for pathologists.

Kenneth D Doig1, Andrew Fellowes2, Prudence Scott3

  • 1Department of Pathology, Peter MacCallum Cancer Centre, Parkville, Vic, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic, Australia.

Pathology
|February 14, 2022
PubMed
Summary
This summary is machine-generated.

Tumor mutational burden (TMB) is a key biomarker for predicting cancer immunotherapy response. Understanding TMB helps identify patients likely to benefit from immune checkpoint inhibitors.

Keywords:
Tumour mutational burdenbiomarkercancer genomicsclinical sequencingimmune checkpoint blockademolecular diagnosticsneoantigen predictionprecision oncology

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Area of Science:

  • Oncology
  • Immunology
  • Genomics

Background:

  • Cancer immunotherapy offers durable responses but lacks uniform efficacy across patients and tumor types.
  • A critical need exists for biomarkers to predict patient response to immunotherapies.
  • Tumor mutational burden (TMB) is emerging as a predictive biomarker for immunotherapy.

Purpose of the Study:

  • To provide an overview of the Tumor Mutational Burden (TMB) biomarker.
  • To explain TMB determination, its molecular basis, and relation to neoantigens.
  • To discuss the clinical utility and challenges of using TMB in cancer treatment.

Main Methods:

  • Review of scientific literature on TMB and cancer immunotherapy.
  • Definition and explanation of TMB as a diagnostic biomarker.
  • Discussion of TMB's role in stratifying patients for immune checkpoint inhibitor therapy.

Main Results:

  • TMB is defined as the average number of somatic mutations per megabase in a tumor exome.
  • TMB can stratify cancer patients for response to immune checkpoint inhibitors.
  • The relationship between TMB, neoantigens, and clinical response is complex.

Conclusions:

  • TMB is a valuable predictive biomarker for cancer immunotherapy.
  • Further understanding and standardization are needed for optimal clinical application of TMB.
  • Practicing pathologists should be informed about TMB's role in personalized cancer medicine.