ATM and TP53 mutations show mutual exclusivity but distinct
clinical impact in mantle cell lymphoma patients

J 2019

ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients

MAREČKOVÁ, Andrea; Jitka MALČÍKOVÁ; Nikola TOM; Karol PÁL; Lenka RADOVÁ et al.

Základní údaje

Originální název

ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients

Autoři

MAREČKOVÁ, Andrea; Jitka MALČÍKOVÁ ; Nikola TOM; Karol PÁL; Lenka RADOVÁ; David ŠÁLEK; Andrea JANÍKOVÁ; Mojmír MOULIS; Jana ŠMARDOVÁ; Leoš KŘEN; Jiří MAYER a Martin TRBUŠEK

Vydání

LEUKEMIA & LYMPHOMA, LONDON, INFORMA HEALTHCARE, 2019, 1042-8194

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: 2.969

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/19:00108352

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Mantle cell lymphoma; ATM; TP53; p21; SOX11; survival

Štítky

14110212, 14110230, CF GEN, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 15. 10. 2024 09:09, Ing. Martina Blahová

Anotace

V originále

Mantle cell lymphoma (MCL) is characterized by the hallmark t(11;14)(q13;q32) translocation, leading to cyclin D1 over-expression. Additionally, disrupting the DNA damage response pathway through ATM or TP53 defects plays an important role in MCL pathogenesis. Using deep next-generation sequencing we analyzed the mutual composition of ATM and TP53 mutations in 72 MCL patients, and assessed their impact on progression-free survival (PFS) and overall survival (OS). Mutated ATM and TP53 alleles were found in 51% (37/72) and 22% (16/72) of the cases examined, respectively, with only three patients harboring mutations in both genes. Only a mutated TP53 gene was associated with the significantly reduced PFS and OS and the same output was observed when ATM and TP53 defective groups included also sole deletions 11q and 17p, respectively. Determining the exact ATM/p53 pathway dysfunction may influence the selection of MCL patients for innovative therapies based on the targeted inhibition of selected proteins.

Návaznosti

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

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

TE02000058, projekt VaV

Název: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Akronym: MOLDIMED)

Investor: Technologická agentura ČR, Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu

90091, velká výzkumná infrastruktura

Název: NCMG

Citovat

MAREČKOVÁ, Andrea; Jitka MALČÍKOVÁ; Nikola TOM; Karol PÁL; Lenka RADOVÁ; David ŠÁLEK; Andrea JANÍKOVÁ; Mojmír MOULIS; Jana ŠMARDOVÁ; Leoš KŘEN; Jiří MAYER a Martin TRBUŠEK. ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients. LEUKEMIA & LYMPHOMA. LONDON: INFORMA HEALTHCARE, 2019, roč. 60, č. 6, s. 1420-1428. ISSN 1042-8194. Dostupné z: https://doi.org/10.1080/10428194.2018.1542144.

@article{1545496,
   author = {Marečková, Andrea and Malčíková, Jitka and Tom, Nikola and Pál, Karol and Radová, Lenka and Šálek, David and Janíková, Andrea and Moulis, Mojmír and Šmardová, Jana and Křen, Leoš and Mayer, Jiří and Trbušek, Martin},
   article_location = {LONDON},
   article_number = {6},
   doi = {https://doi.org/10.1080/10428194.2018.1542144},
   keywords = {Mantle cell lymphoma; ATM; TP53; p21; SOX11; survival},
   language = {eng},
   issn = {1042-8194},
   journal = {LEUKEMIA & LYMPHOMA},
   title = {ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients},
   url = {http://dx.doi.org/10.1080/10428194.2018.1542144},
   volume = {60},
   year = {2019}
}

TY  - JOUR
ID  - 1545496
AU  - Marečková, Andrea - Malčíková, Jitka - Tom, Nikola - Pál, Karol - Radová, Lenka - Šálek, David - Janíková, Andrea - Moulis, Mojmír - Šmardová, Jana - Křen, Leoš - Mayer, Jiří - Trbušek, Martin
PY  - 2019
TI  - ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients
JF  - LEUKEMIA & LYMPHOMA
VL  - 60
IS  - 6
SP  - 1420-1428
EP  - 1420-1428
PB  - INFORMA HEALTHCARE
SN  - 10428194
KW  - Mantle cell lymphoma
KW  - ATM
KW  - TP53
KW  - p21
KW  - SOX11
KW  - survival
UR  - http://dx.doi.org/10.1080/10428194.2018.1542144
L2  - http://dx.doi.org/10.1080/10428194.2018.1542144
N2  - Mantle cell lymphoma (MCL) is characterized by the hallmark t(11;14)(q13;q32) translocation, leading to cyclin D1 over-expression. Additionally, disrupting the DNA damage response pathway through ATM or TP53 defects plays an important role in MCL pathogenesis. Using deep next-generation sequencing we analyzed the mutual composition of ATM and TP53 mutations in 72 MCL patients, and assessed their impact on progression-free survival (PFS) and overall survival (OS). Mutated ATM and TP53 alleles were found in 51% (37/72) and 22% (16/72) of the cases examined, respectively, with only three patients harboring mutations in both genes. Only a mutated TP53 gene was associated with the significantly reduced PFS and OS and the same output was observed when ATM and TP53 defective groups included also sole deletions 11q and 17p, respectively. Determining the exact ATM/p53 pathway dysfunction may influence the selection of MCL patients for innovative therapies based on the targeted inhibition of selected proteins.
ER  -

MAREČKOVÁ, Andrea; Jitka MALČÍKOVÁ; Nikola TOM; Karol PÁL; Lenka RADOVÁ; David ŠÁLEK; Andrea JANÍKOVÁ; Mojmír MOULIS; Jana ŠMARDOVÁ; Leoš KŘEN; Jiří MAYER a Martin TRBUŠEK. ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients. \textit{LEUKEMIA \&{}amp; LYMPHOMA}. LONDON: INFORMA HEALTHCARE, 2019, roč.~60, č.~6, s.~1420-1428. ISSN~1042-8194. Dostupné z: https://doi.org/10.1080/10428194.2018.1542144.

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