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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update
J. Malcikova, S. Pavlova, P. Baliakas, T. Chatzikonstantinou, E. Tausch, M. Catherwood, D. Rossi, T. Soussi, B. Tichy, AP. Kater, CU. Niemann, F. Davi, G. Gaidano, S. Stilgenbauer, R. Rosenquist, K. Stamatopoulos, P. Ghia, S. Pospisilova
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, přehledy
Grantová podpora
FNBr 65269705
Ministerstvo Zdravotnictví Ceské Republiky (Ministry of Health of the Czech Republic)
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Nursing & Allied Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- chronická lymfatická leukemie * genetika diagnóza MeSH
- lidé MeSH
- mutace * MeSH
- mutační analýza DNA metody normy MeSH
- nádorový supresorový protein p53 * genetika MeSH
- vysoce účinné nukleotidové sekvenování * metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
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.
Central European Institute of Technology Masaryk University Brno Czech Republic
Clinical Genetics and Genomics Karolinska University Hospital Stockholm Sweden
Department of Hematology Hôpital Pitié Salpêtière AP HP Paris France
Department of Hematology Rigshospitalet Copenhagen Denmark
Department of Immunology Genetics and Pathology Uppsala University Uppsala Sweden
Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden
Division of CLL Department of Internal Medicine 3 Ulm University Ulm Germany
Haematology Department Belfast Health and Social Care Trust Belfast United Kingdom
Hematopoietic and Leukemic Development UMRS_938 Sorbonne University Paris France
Institute of Applied Biosciences Centre for Research and Technology Hellas Thessaloniki Greece
Citace poskytuje Crossref.org
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- $a 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.
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