Publication details

ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation

Authors

MALČÍKOVÁ Jitka TAUSCH E. ROSSI D. SUTTON L.A. SOUSSI T. ZENZ T. KATER A.P. NIEMANN C.U. GONZALEZ D. DAVI F. DIAZ M.G. MORENO C. GAIDANO G. STAMATOPOULOS K. ROSENQUIST R. STILGENBAUER S. GHIA P. POSPÍŠILOVÁ Šárka

Year of publication 2018
Type Article in Periodical
Magazine / Source Leukemia
MU Faculty or unit

Central European Institute of Technology

Citation
Web https://www.nature.com/articles/s41375-017-0007-7.pdf
Doi http://dx.doi.org/10.1038/s41375-017-0007-7
Keywords CODON-72 POLYMORPHIC VARIANTS; 17P DELETION; OPEN-LABEL; DISEASE PROGRESSION; DETAILED ANALYSIS; CLINICAL IMPACT; HIGH-THROUGHPUT; HUMAN CANCERS; GENE; SURVIVAL
Description In chronic lymphocytic leukemia (CLL), TP53 gene defects, due to deletion of the 17p13 locus and/or mutation(s) within the TP53 gene, are associated with resistance to chemoimmunotherapy and a particularly dismal clinical outcome. On these grounds, analysis of TP53 aberrations has been incorporated into routine clinical diagnostics to improve patient stratification and optimize therapeutic decisions. The predictive implications of TP53 aberrations have increasing significance in the era of novel targeted therapies, i.e., inhibitors of B-cell receptor (BcR) signaling and anti-apoptotic BCL2 family members, owing to their efficacy in patients with TP53 defects. In this report, the TP53 Network of the European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) presents updated recommendations on the methodological approaches for TP53 mutation analysis. Moreover, it provides guidance to ensure that the analysis is performed in a timely manner for all patients requiring treatment and that the data is interpreted and reported in a consistent, standardized, and accurate way. Since next generation sequencing technologies are gaining prominence within diagnostic laboratories, this report also offers advice and recommendations for the interpretation of TP53 mutation data generated by this methodology.
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