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

  1. Malcikova, Jitka ORCID logo
  2. Pavlova, Sarka ORCID logo
  3. Baliakas, Panagiotis ORCID logo
  4. Chatzikonstantinou, Thomas ORCID logo
  5. Tausch, Eugen
  6. Catherwood, Mark
  7. Rossi, Davide
  8. soussi, thierry ORCID logo
  9. Tichy, Boris
  10. Kater, Arnon ORCID logo
  11. Niemann, Carsten ORCID logo
  12. Davi, Frederic
  13. GAIDANO, Gianluca ORCID logo
  14. Stilgenbauer, Stephan ORCID logo
  15. Rosenquist , Richard ORCID logo
  16. Stamatopoulos, Kostas ORCID logo
  17. Ghia, Paolo ORCID logo
  18. Pospisilova, Sarka ORCID logo

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1000 Titel
  • ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—2024 update
1000 Autor/in
  1. Malcikova, Jitka |
  2. Pavlova, Sarka |
  3. Baliakas, Panagiotis |
  4. Chatzikonstantinou, Thomas |
  5. Tausch, Eugen |
  6. Catherwood, Mark |
  7. Rossi, Davide |
  8. soussi, thierry |
  9. Tichy, Boris |
  10. Kater, Arnon |
  11. Niemann, Carsten |
  12. Davi, Frederic |
  13. GAIDANO, Gianluca |
  14. Stilgenbauer, Stephan |
  15. Rosenquist , Richard |
  16. Stamatopoulos, Kostas |
  17. Ghia, Paolo |
  18. Pospisilova, Sarka |
1000 Verlag
  • Nature Publishing Group UK
1000 Erscheinungsjahr 2024
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2024-05-16
1000 Erschienen in
1000 Quellenangabe
  • 38(7):1455-1468
1000 Copyrightjahr
  • 2024
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41375-024-02267-x |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11217004/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • <jats:title>Abstract</jats:title><jats:p>In chronic lymphocytic leukemia (CLL), analysis of <jats:italic>TP53</jats:italic> 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 <jats:italic>TP53</jats:italic> 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 <jats:italic>TP53</jats:italic>-mutated clones, a specific variant allele frequency (VAF) cut-off for reporting <jats:italic>TP53</jats:italic> mutations is no longer recommended, but instead, the need for thorough method validation by the reporting laboratory is emphasized. The result of <jats:italic>TP53</jats:italic> 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 <jats:italic>TP53</jats:italic> 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 <jats:italic>TP53</jats:italic> aberrations. These recommendations are intended to assist diagnosticians in the correct assessment of <jats:italic>TP53</jats:italic> 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.</jats:p>
1000 Sacherschließung
lokal High-Throughput Nucleotide Sequencing/methods [MeSH]
lokal Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis [MeSH]
lokal Mutation [MeSH]
lokal Humans [MeSH]
lokal Review Article
lokal Tumor Suppressor Protein p53/genetics [MeSH]
lokal /631/67/395
lokal Leukemia, Lymphocytic, Chronic, B-Cell/genetics [MeSH]
lokal /692/499
lokal review-article
lokal /45/23
lokal DNA Mutational Analysis/standards [MeSH]
lokal DNA Mutational Analysis/methods [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-3650-6698|https://orcid.org/0000-0003-1528-9743|https://orcid.org/0000-0002-5634-7156|https://orcid.org/0000-0003-4105-1253|https://frl.publisso.de/adhoc/uri/VGF1c2NoLCBFdWdlbg==|https://frl.publisso.de/adhoc/uri/Q2F0aGVyd29vZCwgTWFyaw==|https://frl.publisso.de/adhoc/uri/Um9zc2ksIERhdmlkZQ==|https://orcid.org/0000-0001-8184-3293|https://frl.publisso.de/adhoc/uri/VGljaHksIEJvcmlz|https://orcid.org/0000-0003-3190-1891|https://orcid.org/0000-0001-9880-5242|https://frl.publisso.de/adhoc/uri/RGF2aSwgRnJlZGVyaWM=|https://orcid.org/0000-0002-4681-0151|https://orcid.org/0000-0002-6830-9296|https://orcid.org/0000-0002-0211-8788|https://orcid.org/0000-0001-8529-640X|https://orcid.org/0000-0003-3750-7342|https://orcid.org/0000-0001-7136-2680
1000 Hinweis
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