ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update.

Autor: Malcikova J; Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty, Masaryk University, Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Pavlova S; Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty, Masaryk University, Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Baliakas P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Chatzikonstantinou T; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., Tausch E; Division of CLL, Department of Internal Medicine III, Ulm University, Ulm, Germany., Catherwood M; Haematology Department, Belfast Health and Social Care Trust, Belfast, United Kingdom., Rossi D; Hematology, Oncology Institute of Southern Switzerland and Institute of Oncology Research, Università della Svizzera Italiana, Bellinzona, Switzerland., Soussi T; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Hematopoietic and Leukemic Development, UMRS_938, Sorbonne University, Paris, France., Tichy B; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Kater AP; Department of Hematology, Cancer Center Amsterdam, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Niemann CU; Department of Hematology, Rigshospitalet, Copenhagen, Denmark., Davi F; Sorbonne Université, Paris, France.; Department of Hematology, Hôpital Pitié-Salpêtière, AP-HP, Paris, France., Gaidano G; Division of Haematology, Department of Translational Medicine, University of Eastern Piedmont, Novara, Italy., Stilgenbauer S; Division of CLL, Department of Internal Medicine III, Ulm University, Ulm, Germany., Rosenquist R; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Stamatopoulos K; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., Ghia P; Università Vita-Salute San Raffaele, Milan, Italy. ghia.paolo@hsr.it.; Strategic Research Program on CLL, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, Italy. ghia.paolo@hsr.it., Pospisilova S; Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty, Masaryk University, Brno, Czech Republic. sarka.pospisilova@ceitec.muni.cz.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic. sarka.pospisilova@ceitec.muni.cz.
Jazyk: angličtina
Zdroj: Leukemia [Leukemia] 2024 Jul; Vol. 38 (7), pp. 1455-1468. Date of Electronic Publication: 2024 May 16.
DOI: 10.1038/s41375-024-02267-x
Abstrakt: In chronic lymphocytic leukemia (CLL), analysis of TP53 aberrations (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 TP53 analysis 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 TP53 mutations is no longer recommended, but instead, the need for thorough method validation by the reporting laboratory is emphasized. The result of TP53 analyses 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 TP53 variants 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 TP53 aberrations. These recommendations are intended to assist diagnosticians in the correct assessment of TP53 mutation 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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