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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00070945" target="_blank" >RIV/65269705:_____/19:00070945 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/19:00108352

Výsledek na webu

<a href="https://www.tandfonline.com/doi/abs/10.1080/10428194.2018.1542144" target="_blank" >https://www.tandfonline.com/doi/abs/10.1080/10428194.2018.1542144</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/10428194.2018.1542144" target="_blank" >10.1080/10428194.2018.1542144</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Leukemia &amp; Lymphoma

ISSN

1042-8194

e-ISSN

—

Svazek periodika

60

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

9

Strana od-do

1420-1428

Kód UT WoS článku

000472447600009

EID výsledku v databázi Scopus

2-s2.0-85059889412