TY - JOUR
T1 - Tumor mutation burden testing
T2 - a survey of the International Quality Network for Pathology (IQN Path)
AU - Fenizia, Francesca
AU - Wolstenholme, Nicola
AU - Fairley, Jennifer A.
AU - Rouleau, Etienne
AU - Cheetham, Melanie H.
AU - Horan, Martin P.
AU - Torlakovic, Emina
AU - Besse, Benjamin
AU - Al Dieri, Raed
AU - Tiniakos, Dina G.
AU - Deans, Zandra C.
AU - Patton, Simon J.
AU - Normanno, Nicola
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - 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.
AB - 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.
KW - Biomarkers
KW - Immune-checkpoint inhibitors
KW - Next-generation sequencing
KW - Tumour mutation burden
UR - http://www.scopus.com/inward/record.url?scp=85104355921&partnerID=8YFLogxK
U2 - 10.1007/s00428-021-03093-7
DO - 10.1007/s00428-021-03093-7
M3 - Article
C2 - 33856555
AN - SCOPUS:85104355921
SN - 0945-6317
VL - 479
SP - 1067
EP - 1072
JO - Virchows Archiv
JF - Virchows Archiv
IS - 6
ER -