Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path)

Francesca Fenizia, Nicola Wolstenholme, Jennifer A. Fairley, Etienne Rouleau, Melanie H. Cheetham, Martin P. Horan, Emina Torlakovic, Benjamin Besse, Raed Al Dieri, Dina G. Tiniakos, Zandra C. Deans, Simon J. Patton, Nicola Normanno

    Résultats de recherche: Contribution à un journalArticleRevue par des pairs

    4 Citations (Scopus)

    Résumé

    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.

    langue originaleAnglais
    Pages (de - à)1067-1072
    Nombre de pages6
    journalVirchows Archiv
    Volume479
    Numéro de publication6
    Les DOIs
    étatPublié - 1 déc. 2021

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