EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F20%3A00116244" target="_blank" >RIV/00216224:14110/20:00116244 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/65269705:_____/20:00072734

Výsledek na webu

<a href="http://www.haematologica.org/content/haematol/early/2019/08/13/haematol.2019.222323.full.pdf" target="_blank" >http://www.haematologica.org/content/haematol/early/2019/08/13/haematol.2019.222323.full.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3324/haematol.2019.222323" target="_blank" >10.3324/haematol.2019.222323</a>

Jazyk výsledku

angličtina

Název v původním jazyce

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia

Popis výsledku v původním jazyce

The enhancer of zeste homolog 2 (EZH2) is a histone methyltransferase and functional core subunit of the polycomb repressive complex 2 (PRC2), which is a key epigenetic regulator involved in embryonic development and transcriptional repression of genes by catalyzing the methylation of histone H3 at lysine 27 (H3K27me2/3). EZH2 overexpression has been associated with oncogenic activity and worse progression-free survival in several types of cancer including lymphoma, melanoma, prostate and breast cancer.2 Moreover, the detection of recurrent EZH2 mutations, both gain-of-function in lymphomas and loss-of-function in e.g. in medulloblastoma, bladder and renal cancers, point to a mutual role of EZH2 for disease pathology depending on the distinct type of cancer and indicate the potential of EZH2 as a therapeutic target. In myeloid malignancies such as myelodysplastic syndromes (MDS), loss of EZH2 activity by inactivating mutations is associated with poor prognosis. More recently, EZH2 inactivation by post translational modification was shown to induce chemoresistance in acute myeloid leukemia (AML). However, data on the frequency and prognostic role of EZH2 mutations in AML are still scarce and mostly confined to smaller cohorts. To investigate the prevalence and prognostic impact of this alteration in more detail, we analyzed a large cohort of AML patients (n = 1604) for EZH2 mutations.

Název v anglickém jazyce

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia

Popis výsledku anglicky

The enhancer of zeste homolog 2 (EZH2) is a histone methyltransferase and functional core subunit of the polycomb repressive complex 2 (PRC2), which is a key epigenetic regulator involved in embryonic development and transcriptional repression of genes by catalyzing the methylation of histone H3 at lysine 27 (H3K27me2/3). EZH2 overexpression has been associated with oncogenic activity and worse progression-free survival in several types of cancer including lymphoma, melanoma, prostate and breast cancer.2 Moreover, the detection of recurrent EZH2 mutations, both gain-of-function in lymphomas and loss-of-function in e.g. in medulloblastoma, bladder and renal cancers, point to a mutual role of EZH2 for disease pathology depending on the distinct type of cancer and indicate the potential of EZH2 as a therapeutic target. In myeloid malignancies such as myelodysplastic syndromes (MDS), loss of EZH2 activity by inactivating mutations is associated with poor prognosis. More recently, EZH2 inactivation by post translational modification was shown to induce chemoresistance in acute myeloid leukemia (AML). However, data on the frequency and prognostic role of EZH2 mutations in AML are still scarce and mostly confined to smaller cohorts. To investigate the prevalence and prognostic impact of this alteration in more detail, we analyzed a large cohort of AML patients (n = 1604) for EZH2 mutations.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Haematologica

ISSN

0390-6078

e-ISSN

—

Svazek periodika

105

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

4

Strana od-do

„E228“-„E231“

Kód UT WoS článku

000530645400007

EID výsledku v databázi Scopus

2-s2.0-85086015860