Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path).
Virchows Arch
; 479(6): 1067-1072, 2021 Dec.
Article
em En
| MEDLINE
| ID: mdl-33856555
ABSTRACT
While tumour mutation burden (TMB) is emerging as a possible biomarker for immune-checkpoint inhibitors (ICI), methods for testing have not been standardised as yet. In April 2019, the International Quality Network for Pathology (IQN Path) launched a survey to assess the current practice of TMB testing. Of the 127 laboratories that replied, 69 (54.3%) had already introduced TMB analysis for research purposes and/or clinical applications. Fifty laboratories (72.5%) used targeted sequencing, although a number of different panels were employed. Most laboratories tested formalin-fixed paraffin-embedded material (94.2%), while 18/69 (26%) tested also cell-free DNA. Fifty-five laboratories used both single nucleotide variants and indels for TMB calculation; 20 centers included only non-synonymous variants. In conclusion, the data from this survey indicate that multiple global laboratories were capable of rapidly introducing routine clinical TMB testing. However, the variability of testing methods raises concerns about the reproducibility of results among centers.
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Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
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Biomarcadores Tumorais
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Polimorfismo de Nucleotídeo Único
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Mutação INDEL
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Sequenciamento de Nucleotídeos em Larga Escala
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Neoplasias
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article