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

J 2018

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

MALČÍKOVÁ, Jitka, E. TAUSCH, D. ROSSI, L.A. SUTTON, T. SOUSSI et. al.

Basic information

Original name

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

Authors

MALČÍKOVÁ, Jitka (203 Czech Republic, belonging to the institution), E. TAUSCH (276 Germany), D. ROSSI (756 Switzerland), L.A. SUTTON (752 Sweden), T. SOUSSI (250 France), T. ZENZ (250 France), A.P. KATER (528 Netherlands), C.U. NIEMANN (208 Denmark), D. GONZALEZ (372 Ireland), F. DAVI (250 France), M.G. DIAZ (724 Spain), C. MORENO (724 Spain), G. GAIDANO (380 Italy), K. STAMATOPOULOS (300 Greece), R. ROSENQUIST (752 Sweden), S. STILGENBAUER (276 Germany), P. GHIA (380 Italy) and Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Leukemia, London, Nature Publishing Group, 2018, 0887-6924

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 9.944

RIV identification code

RIV/00216224:14740/18:00103869

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.1038/s41375-017-0007-7

UT WoS

000431769800003

Keywords in English

CODON-72 POLYMORPHIC VARIANTS; 17P DELETION; OPEN-LABEL; DISEASE PROGRESSION; DETAILED ANALYSIS; CLINICAL IMPACT; HIGH-THROUGHPUT; HUMAN CANCERS; GENE; SURVIVAL

Abstract

V originále

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.

Links

LM2015091, research and development project

Name: Národní centrum lékařské genomiky (Acronym: NCLG)

Investor: Ministry of Education, Youth and Sports of the CR

LQ1601, research and development project

Name: CEITEC 2020 (Acronym: CEITEC2020)

Investor: Ministry of Education, Youth and Sports of the CR

ROZV/24/LF/2016, interní kód MU

Name: LF - Příspěvek IP 2016

Investor: Ministry of Education, Youth and Sports of the CR

116026, interní kód MU

Name: HARMONY - Healthcare Alliance for Resourceful Medicines Offensive against Neoplasms in Hematology (Acronym: HARMONY)

Investor: European Union, Innovative Medicines Initiative

692298, interní kód MU

Name: MEDGENET - Medical genomics and epigenomics network (Acronym: MEDGENET)

Investor: European Union, Spreading excellence and widening participation

Citovat

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. 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.

@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.

Detailed Information on Publication Record