TY - JOUR
TI - Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path)
AU - Fenizia, F.
AU - Wolstenholme, N.
AU - Fairley, J.A.
AU - Rouleau, E.
AU - Cheetham, M.H.
AU - Horan, M.P.
AU - Torlakovic, E.
AU - Besse, B.
AU - Al Dieri, R.
AU - Tiniakos, D.G.
AU - Deans, Z.C.
AU - Patton, S.J.
AU - Normanno, N.
JO - Virchows Archiv
PY - 2021
VL - 479
TODO - 6
SP - 1067-1072
PB - Springer Science and Business Media Deutschland GmbH
SN - 0945-6317, 1432-2307
TODO - 10.1007/s00428-021-03093-7
TODO - tumor marker, Australia;  Canada;  clinical decision making;  clinical trial;  dna mutational analysis;  Europe;  genetics;  good laboratory practice;  health care survey;  high throughput sequencing;  human;  indel mutation;  multicenter study;  neoplasm;  observer variation;  pathology;  personalized medicine;  predictive value;  reproducibility;  single nucleotide polymorphism, Australia;  Biomarkers, Tumor;  Canada;  Clinical Decision-Making;  DNA Mutational Analysis;  Europe;  Health Care Surveys;  High-Throughput Nucleotide Sequencing;  Humans;  Immune Checkpoint Inhibitors;  INDEL Mutation;  Laboratory Proficiency Testing;  Neoplasms;  Observer Variation;  Polymorphism, Single Nucleotide;  Precision Medicine;  Predictive Value of Tests;  Reproducibility of Results
TODO - 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. © 2021, The Author(s).
ER -