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@article{1443198,
author = {Malčíková, Jitka and Tausch, E. and Rossi, D. and Sutton, L.A. and Soussi, T. and Zenz, T. and Kater, A.P. and Niemann, C.U. and Gonzalez, D. and Davi, F. and Diaz, M.G. and Moreno, C. and Gaidano, G. and Stamatopoulos, K. and Rosenquist, R. and Stilgenbauer, S. and Ghia, P. and Pospíšilová, Šárka},
article_location = {London},
article_number = {5},
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},
language = {eng},
issn = {0887-6924},
journal = {Leukemia},
title = {ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation},
url = {https://www.nature.com/articles/s41375-017-0007-7.pdf},
volume = {32},
year = {2018}
}
TY - JOUR
ID - 1443198
AU - 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
PY - 2018
TI - ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation
JF - Leukemia
VL - 32
IS - 5
SP - 1070-1080
EP - 1070-1080
PB - Nature Publishing Group
SN - 08876924
KW - CODON-72 POLYMORPHIC VARIANTS
KW - 17P DELETION
KW - OPEN-LABEL
KW - DISEASE PROGRESSION
KW - DETAILED ANALYSIS
KW - CLINICAL IMPACT
KW - HIGH-THROUGHPUT
KW - HUMAN CANCERS
KW - GENE
KW - SURVIVAL
UR - https://www.nature.com/articles/s41375-017-0007-7.pdf
N2 - 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.
ER -
MALČÍKOVÁ, Jitka, E. TAUSCH, D. ROSSI, L.A. SUTTON, T. SOUSSI, T. ZENZ, A.P. KATER, C.U. NIEMANN, D. GONZALEZ, F. DAVI, M.G. DIAZ, C. MORENO, G. GAIDANO, K. STAMATOPOULOS, R. ROSENQUIST, S. STILGENBAUER, P. GHIA and Šárka POSPÍŠILOVÁ. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation. \textit{Leukemia}. London: Nature Publishing Group, 2018, vol.~32, No~5, p.~1070-1080. ISSN~0887-6924. Available from: https://dx.doi.org/10.1038/s41375-017-0007-7.
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