EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F17%3A00095650" target="_blank" >RIV/00216224:14740/17:00095650 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/17:00067346

Result on the web

<a href="http://www.nature.com/leu/journal/v31/n7/full/leu2016359a.html?foxtrotcallback=true" target="_blank" >http://www.nature.com/leu/journal/v31/n7/full/leu2016359a.html?foxtrotcallback=true</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/leu.2016.359" target="_blank" >10.1038/leu.2016.359</a>

Result language

angličtina

Original language name

EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia

Original language description

Recurrent mutations within EGR2 were recently reported in advanced-stage chronic lymphocytic leukemia (CLL) patients and associated with a worse outcome. To study their prognostic impact, 2403 CLL patients were examined for mutations in the EGR2 hotspot region including a screening (n = 1283) and two validation cohorts (UK CLL4 trial patients, n = 366; CLL Research Consortium (CRC) patients, n = 490). Targeted deep-sequencing of 27 known/postulated CLL driver genes was also performed in 38 EGR2-mutated patients to assess concurrent mutations. EGR2 mutations were detected in 91/2403 (3.8%) investigated cases, and associated with younger age at diagnosis, advanced clinical stage, high CD38 expression and unmutated IGHV genes. EGR2-mutated patients frequently carried ATM lesions (42%), TP53 aberrations (18%) and NOTCH1/FBXW7 mutations (16%). EGR2 mutations independently predicted shorter time-to-first-treatment (TTFT) and overall survival (OS) in the screening cohort; they were confirmed associated with reduced TTFT and OS in the CRC cohort and independently predicted short OS from randomization in the UK CLL4 cohort. A particularly dismal outcome was observed among EGR2-mutated patients who also carried TP53 aberrations. In summary, EGR2 mutations were independently associated with an unfavorable prognosis, comparable to CLL patients carrying TP53 aberrations, suggesting that EGR2-mutated patients represent a new patient subgroup with very poor outcome.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30200 - Clinical medicine

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2017

Confidentiality

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

Name of the periodical

Leukemia

ISSN

0887-6924

e-ISSN

—

Volume of the periodical

31

Issue of the periodical within the volume

7

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

1547-1554

UT code for WoS article

000404745300009

EID of the result in the Scopus database

—