TUMOR MUTATION BURDEN

The tumor mutation load (TMB) represents the total number of mutations per coding area of a tumor genome calculated through the genomic sequencing of tumor tissue samples. It has been found that the value of TMB correlates with the efficacy of anti-PD-L1 / PD-1 immunotherapies in some types of tumors.

Analysis of the tumor mutation load (TMB)

The tumor mutation load (TMB) represents the total number of mutations per coding area of a tumor genome calculated through the genomic sequencing of tumor tissue samples. It has been found that the value of TMB correlates with the efficacy of anti-PD-L1 / PD-1 immunotherapies in some types of tumors.

TMB algorithm

 

  • The TMB is calculated based on the regions of the coding DNA sequence (CDS) included in the NovoPM panel (approximately 1.5Mb).

 

  • In somatic mutations they are identified by VarScan2.

 

  • In the following mutations are excluded from the TMB calculation:

 

  • Germline mutations

  • Low frequency mutations (threshold = 2%)

  • Known driver mutations (EGFR, MET, BRAF, PIK3CA, NF1, KRAS and NOTCH family)

  • Synonymous mutations

  • Repeat regions

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