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ERIC recommendations for TP53mutation analysis in chronic lymphocytic leukemia—2024 update

Authors :
Malcikova, Jitka
Pavlova, Sarka
Baliakas, Panagiotis
Chatzikonstantinou, Thomas
Tausch, Eugen
Catherwood, Mark
Rossi, Davide
Soussi, Thierry
Tichy, Boris
Kater, Arnon P.
Niemann, Carsten U.
Davi, Frederic
Gaidano, Gianluca
Stilgenbauer, Stephan
Rosenquist, Richard
Stamatopoulos, Kostas
Ghia, Paolo
Pospisilova, Sarka
Source :
Leukemia; 20240101, Issue: Preprints p1-14, 14p
Publication Year :
2024

Abstract

In chronic lymphocytic leukemia (CLL), analysis of TP53aberrations (deletion and/or mutation) is a crucial part of treatment decision-making algorithms. Technological and treatment advances have resulted in the need for an update of the last recommendations for TP53analysis in CLL, published by ERIC, the European Research Initiative on CLL, in 2018. Based on the current knowledge of the relevance of low-burden TP53-mutated clones, a specific variant allele frequency (VAF) cut-off for reporting TP53mutations is no longer recommended, but instead, the need for thorough method validation by the reporting laboratory is emphasized. The result of TP53analyses should always be interpreted within the context of available laboratory and clinical information, treatment indication, and therapeutic options. Methodological aspects of introducing next-generation sequencing (NGS) in routine practice are discussed with a focus on reliable detection of low-burden clones. Furthermore, potential interpretation challenges are presented, and a simplified algorithm for the classification of TP53variants in CLL is provided, representing a consensus based on previously published guidelines. Finally, the reporting requirements are highlighted, including a template for clinical reports of TP53aberrations. These recommendations are intended to assist diagnosticians in the correct assessment of TP53mutation status, but also physicians in the appropriate understanding of the lab reports, thus decreasing the risk of misinterpretation and incorrect management of patients in routine practice whilst also leading to improved stratification of patients with CLL in clinical trials.

Details

Language :
English
ISSN :
08876924 and 14765551
Issue :
Preprints
Database :
Supplemental Index
Journal :
Leukemia
Publication Type :
Periodical
Accession number :
ejs66399886
Full Text :
https://doi.org/10.1038/s41375-024-02267-x