Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations.
Cancer genomics
Genetic databases
Predictive markers
Tumour biomarkers
Journal
Communications medicine
ISSN: 2730-664X
Titre abrégé: Commun Med (Lond)
Pays: England
ID NLM: 9918250414506676
Informations de publication
Date de publication:
2021
2021
Historique:
received:
16
02
2021
accepted:
09
11
2021
entrez:
23
5
2022
pubmed:
24
5
2022
medline:
24
5
2022
Statut:
epublish
Résumé
Tumor mutational burden (TMB) has been proposed as a predictive biomarker of response to immunotherapy. Efforts to standardize TMB scores for use in the clinic and to identify the factors that could impact TMB scores are of high importance. However, the biopsy collection site has not been assessed as a factor that may influence TMB scores. We examine a real-world cohort comprising 137,771 specimens across 47 tissues in 12 indications profiled by the FoundationOne assay (Foundation Medicine, Cambridge, MA) to assess the prevalence of biopsy sites for each indication and their TMB scores distribution. We observe a wide variety of biopsy sites from which specimens are sent for genomic testing and show that TMB scores differ in a cancer- and tissue-specific manner. For example, brain or adrenal gland specimens from NSCLC patients show higher TMB scores than local lung specimens (mean difference 3.31 mut/Mb; Our data shed light on the biopsied tissue as a driver of TMB measurement variability in clinical practice.
Sections du résumé
Background
UNASSIGNED
Tumor mutational burden (TMB) has been proposed as a predictive biomarker of response to immunotherapy. Efforts to standardize TMB scores for use in the clinic and to identify the factors that could impact TMB scores are of high importance. However, the biopsy collection site has not been assessed as a factor that may influence TMB scores.
Methods
UNASSIGNED
We examine a real-world cohort comprising 137,771 specimens across 47 tissues in 12 indications profiled by the FoundationOne assay (Foundation Medicine, Cambridge, MA) to assess the prevalence of biopsy sites for each indication and their TMB scores distribution.
Results
UNASSIGNED
We observe a wide variety of biopsy sites from which specimens are sent for genomic testing and show that TMB scores differ in a cancer- and tissue-specific manner. For example, brain or adrenal gland specimens from NSCLC patients show higher TMB scores than local lung specimens (mean difference 3.31 mut/Mb;
Conclusions
UNASSIGNED
Our data shed light on the biopsied tissue as a driver of TMB measurement variability in clinical practice.
Identifiants
pubmed: 35602225
doi: 10.1038/s43856-021-00054-8
pii: 54
pmc: PMC9053207
doi:
Types de publication
Journal Article
Langues
eng
Pagination
56Informations de copyright
© The Author(s) 2021.
Déclaration de conflit d'intérêts
Competing interestsS.P.-C. and A.M.W. are employees of Bristol Myers Squibb. J.F.H., S.H.R. and L.A.A. are employees of Foundation Medicine.
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