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.

Základní údaje

Originální název

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

Autoři

MALČÍKOVÁ, Jitka (203 Česká republika, domácí), E. TAUSCH (276 Německo), D. ROSSI (756 Švýcarsko), L.A. SUTTON (752 Švédsko), T. SOUSSI (250 Francie), T. ZENZ (250 Francie), A.P. KATER (528 Nizozemské království), C.U. NIEMANN (208 Dánsko), D. GONZALEZ (372 Irsko), F. DAVI (250 Francie), M.G. DIAZ (724 Španělsko), C. MORENO (724 Španělsko), G. GAIDANO (380 Itálie), K. STAMATOPOULOS (300 Řecko), R. ROSENQUIST (752 Švédsko), S. STILGENBAUER (276 Německo), P. GHIA (380 Itálie) a Šárka POSPÍŠILOVÁ (203 Česká republika, garant, domácí)

Vydání

Leukemia, London, Nature Publishing Group, 2018, 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: 9.944

Kód RIV

RIV/00216224:14740/18:00103869

Organizační jednotka

Středoevropský technologický institut

DOI

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

UT WoS

000431769800003

Klíčová slova anglicky

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

Štítky

14110212, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 3. 2019 13:15, Mgr. Pavla Foltynová, Ph.D.

Anotace

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.

Návaznosti

LM2015091, projekt VaV

Název: Národní centrum lékařské genomiky (Akronym: NCLG)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní centrum lékařské genomiky

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

ROZV/24/LF/2016, interní kód MU

Název: LF - Příspěvek IP 2016

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, LF - Příspěvek IP 2016

116026, interní kód MU

Název: HARMONY - Healthcare Alliance for Resourceful Medicines Offensive against Neoplasms in Hematology (Akronym: HARMONY)

Investor: Evropská unie, HARMONY - Healthcare Alliance for Resourceful Medicines Offensive against Neoplasms in Hematology, Innovative Medicines Initiative

692298, interní kód MU

Název: MEDGENET - Medical genomics and epigenomics network (Akronym: MEDGENET)

Investor: Evropská unie, MEDGENET - Medical genomics and epigenomics network, 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 a 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, roč. 32, č. 5, s. 1070-1080. ISSN 0887-6924. Dostupné z: 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 a 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, roč.~32, č.~5, s.~1070-1080. ISSN~0887-6924. Dostupné z: https://dx.doi.org/10.1038/s41375-017-0007-7.

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