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

J 2024

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

MALČÍKOVÁ, Jitka; Šárka PAVLOVÁ; Panagiotis BALIAKAS; Thomas CHATZIKONSTANTINOU; Eugen TAUSCH et al.

Základní údaje

Originální název

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

Autoři

Vydání

Leukemia, London, Nature Publishing Group, 2024, 0887-6924

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30204 Oncology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 13.400

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/24:00136218

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

JOINT-CONSENSUS-RECOMMENDATION; FOR-MOLECULAR-PATHOLOGY; CLINICAL IMPACT; SEQUENCE; VARIANTS;SURVIVAL;CLL; ASSOCIATION;GENE; GUIDELINES; VALIDATION

Štítky

14110212, 14110323, CF GEN, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 18. 3. 2025 12:52, Mgr. Eva Dubská

Anotace

V originále

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.

Návaznosti

LX22NPO5102, projekt VaV

Název: Národní ústav pro výzkum rakoviny (Akronym: NÚVR)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní ústav pro výzkum rakoviny, 5.1 EXCELES

90267, velká výzkumná infrastruktura

Název: NCMG III

Přiložené soubory

ERIC_recommendations_for_TP53_mutation_analysis_in_chronic_lymphocytic_leukemia-2024_update.pdf

Citovat

MALČÍKOVÁ, Jitka; Šárka PAVLOVÁ; Panagiotis BALIAKAS; Thomas CHATZIKONSTANTINOU; Eugen TAUSCH; Mark CATHERWOOD; Davide ROSSI; Thierry SOUSSI; Boris TICHÝ; Arnon P KATER; Carsten U NIEMANN; Frederic DAVI; Gianluca GAIDANO; Stephan STILGENBAUER; Richard ROSENQUIST; Kostas STAMATOPOULOS; Paolo GHIA a Šárka POSPÍŠILOVÁ. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update. Leukemia. London: Nature Publishing Group, 2024, roč. 38, č. 7, s. 1455-1468. ISSN 0887-6924. Dostupné z: https://doi.org/10.1038/s41375-024-02267-x.

@article{2409843,
   author = {Malčíková, Jitka and Pavlová, Šárka and Baliakas, Panagiotis and Chatzikonstantinou, Thomas and Tausch, Eugen and Catherwood, Mark and Rossi, Davide and Soussi, Thierry and Tichý, Boris and Kater, Arnon P and Niemann, Carsten U and Davi, Frederic and Gaidano, Gianluca and Stilgenbauer, Stephan and Rosenquist, Richard and Stamatopoulos, Kostas and Ghia, Paolo and Pospíšilová, Šárka},
   article_location = {London},
   article_number = {7},
   doi = {https://doi.org/10.1038/s41375-024-02267-x},
   keywords = {JOINT-CONSENSUS-RECOMMENDATION; FOR-MOLECULAR-PATHOLOGY; CLINICAL IMPACT; SEQUENCE; VARIANTS;SURVIVAL;CLL; ASSOCIATION;GENE; GUIDELINES; VALIDATION},
   language = {eng},
   issn = {0887-6924},
   journal = {Leukemia},
   title = {ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update},
   url = {https://www.nature.com/articles/s41375-024-02267-x},
   volume = {38},
   year = {2024}
}

TY  - JOUR
ID  - 2409843
AU  - Malčíková, Jitka - Pavlová, Šárka - Baliakas, Panagiotis - Chatzikonstantinou, Thomas - Tausch, Eugen - Catherwood, Mark - Rossi, Davide - Soussi, Thierry - Tichý, Boris - Kater, Arnon P - Niemann, Carsten U - Davi, Frederic - Gaidano, Gianluca - Stilgenbauer, Stephan - Rosenquist, Richard - Stamatopoulos, Kostas - Ghia, Paolo - Pospíšilová, Šárka
PY  - 2024
TI  - ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update
JF  - Leukemia
VL  - 38
IS  - 7
SP  - 1455-1468
EP  - 1455-1468
PB  - Nature Publishing Group
SN  - 08876924
KW  - JOINT-CONSENSUS-RECOMMENDATION
KW  - FOR-MOLECULAR-PATHOLOGY
KW  - CLINICAL IMPACT
KW  - SEQUENCE
KW  - VARIANTS;SURVIVAL;CLL
KW  - ASSOCIATION;GENE
KW  - GUIDELINES
KW  - VALIDATION
UR  - https://www.nature.com/articles/s41375-024-02267-x
N2  - 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.
ER  -

MALČÍKOVÁ, Jitka; Šárka PAVLOVÁ; Panagiotis BALIAKAS; Thomas CHATZIKONSTANTINOU; Eugen TAUSCH; Mark CATHERWOOD; Davide ROSSI; Thierry SOUSSI; Boris TICHÝ; Arnon P KATER; Carsten U NIEMANN; Frederic DAVI; Gianluca GAIDANO; Stephan STILGENBAUER; Richard ROSENQUIST; Kostas STAMATOPOULOS; Paolo GHIA a Šárka POSPÍŠILOVÁ. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update. \textit{Leukemia}. London: Nature Publishing Group, 2024, roč.~38, č.~7, s.~1455-1468. ISSN~0887-6924. Dostupné z: https://doi.org/10.1038/s41375-024-02267-x.

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