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Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine by Célia Dupain; Tom Gutman; Elodie Girard; Choumouss Kamoun; Grégoire Marret; Zahra Castel-Ajgal; Marie-Paule Sablin; Cindy Neuzillet; Edith Borcoman; Ségolène Hescot; Céline Callens; Olfa Trabelsi-Grati; Samia Melaabi; Roseline Vibert; Samantha Antonio; Coralie Franck; Michèle Galut; Isabelle Guillou; Maral Halladjian; Yves Allory; Joanna Cyrta; Julien Romejon; Eleonore Frouin; Dominique Stoppa-Lyonnet; Jennifer Wong; Christophe Le Tourneau; Ivan Bièche; Nicolas Servant; Maud Kamal; Julien Masliah-Planchon is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine about?

## Background High tumor mutational burden (TMB) was reported to predict the efficacy of immune checkpoint inhibitors (ICIs). Pembrolizumab, an anti-PD-1, received FDA-approval for the treatment of unresectable/metastatic tumors with high TMB as determined by the FoundationOne®CDx test. It remains to be determined how TMB can also be calculated using other tests. ## Results FFPE/frozen tumor samples from various origins were sequenced in the frame of the Institut Curie (IC) Molecular Tumor Board using an in-house next-generation sequencing (NGS) panel. A TMB calculation method was developed at IC (IC algorithm) and compared to the FoundationOne® (FO) algorithm. Using IC algorithm, an optimal 10% variant allele frequency (VAF) cut-off was established for TMB evaluation on FFPE samples, compared to 5% on frozen samples. The median TMB score for MSS/POLE WT tumors was 8.8 mut/Mb versus 45 mut/Mb for MSI/POLE-mutated tumors. When focusing on MSS/POLE WT tumor samples, the highest median TMB scores were observed in lymphoma, lung, endometrial, and cervical cancers. After biological manual curation of these cases, 21% of them could be reclassified as MSI/POLE tumors and considered as “tr

Who reads Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine?

Author

Célia Dupain; Tom Gutman; Elodie Girard; Choumouss Kamoun; Grégoire Marret; Zahra Castel-Ajgal; Marie-Paule Sablin; Cindy Neuzillet; Edith Borcoman; Ségolène Hescot; Céline Callens; Olfa Trabelsi-Grati; Samia Melaabi; Roseline Vibert; Samantha Antonio; Coralie Franck; Michèle Galut; Isabelle Guillou; Maral Halladjian; Yves Allory; Joanna Cyrta; Julien Romejon; Eleonore Frouin; Dominique Stoppa-Lyonnet; Jennifer Wong; Christophe Le Tourneau; Ivan Bièche; Nicolas Servant; Maud Kamal; Julien Masliah-Planchon

Publisher

BioMed Central

Published

2024

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)