ecTMB: a robust method to estimate and classify tumor mutational burden

Sci Rep. 2020 Mar 18;10(1):4983. doi: 10.1038/s41598-020-61575-1.


Tumor Mutational Burden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be an emerging biomarker for both anti-PD-(L)1 treatment and prognosis; however, multiple challenges still hinder the adoption of TMB as a biomarker. The key challenges are the inconsistency of tumor mutational burden measurement among assays and the lack of a meaningful threshold for TMB classification. Here we describe a new method, ecTMB (Estimation and Classification of TMB), which uses an explicit background mutation model to predict TMB robustly and to classify samples into biologically meaningful subtypes defined by tumor mutational burden.

MeSH terms

  • Biomarkers, Tumor / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics*
  • Exome
  • Genome, Human*
  • Humans
  • Immunotherapy / methods
  • Models, Statistical
  • Mutation*
  • Neoplasms / classification*
  • Neoplasms / drug therapy
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Prognosis
  • Treatment Outcome
  • Tumor Burden*


  • Biomarkers, Tumor
  • DNA, Neoplasm