What is Tumor Mutation Burden (TMB)?

It is a genomic biomarker that quantifies the frequency of somatic(acquired over lifetime) mutations in a patient’s tumor
A high TMB correlates with an aggressive tumor rapidly evolving with high incidence of somatic mutations in the tumor genome

19.3 Million people are affected by Cancer
Global cancer burden is expected to reach 28.4 million cases in 2040 which signifies 40% increase in the next 20 years

Common Cancers

TMB is associated with improved response rate to immune checkpoint inhibitors
It expands the population of patients who can be considered candidates for immunotherapy beyond standard PD-L1 testing
FDA has approved Pembrolizumab for treating adult and pediatric patients with unresectable or metastatic solid tumors with high TMB (>10 Mut/Mb) that have progressed following previous therapy

Provides quantification in terms of TMB score & accurate information on actionable mutations
Single test that analyses all guideline-recommended genes in solid tumors
Accurately identifies genomic alteration in >450 gene with therapeutic / prognostic relevance
Covers 1.65 Mb genomic region, across >450 genes with median depth of coverage of 300X (LOD of 5% for SNVs and 10% for Indels)
Panel is extensively validated using clinical specimens and standards
Includes Unique Molecular Index based testing

Note:

The scope of this NGS testing limits to TMB analysis (in DNA)
Cytosine deamination has significant impact on the score of TMB. The role of cytosine deamination artifacts (C>T) due to poor tissue fixation, age of the block and any other specimen processing related parameters, which are beyond the measure for quantification cannot be ruled out
Our threshold for tissue deamination is <10%
TMB Score is dependent on the choice of genes and the size of the panel
TMB testing is an evolving biomarker and there are no universal guidelines for the choice of genes and methodology used for the calculation of TMB
Different cancers and gene panels may have different cut-offs for Low, Intermediate and High. The current validation on this panel, is based on a limited subset of diverse cancer types from Indian cancer patients