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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F24%3A00079900" target="_blank" >RIV/65269705:_____/24:00079900 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/24:00136218

Result on the web

<a href="https://www.nature.com/articles/s41375-024-02267-x" target="_blank" >https://www.nature.com/articles/s41375-024-02267-x</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41375-024-02267-x" target="_blank" >10.1038/s41375-024-02267-x</a>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

<a href="/en/project/LX22NPO5102" target="_blank" >LX22NPO5102: National institute for cancer research</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Leukemia

ISSN

0887-6924

e-ISSN

1476-5551

Volume of the periodical

38

Issue of the periodical within the volume

7

Country of publishing house

GB - UNITED KINGDOM

Number of pages

14

Pages from-to

1455-1468

UT code for WoS article

001226702700001

EID of the result in the Scopus database

2-s2.0-85193281677