Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00084131" target="_blank" >RIV/00216224:14110/15:00084131 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/65269705:_____/15:00063755

Výsledek na webu

<a href="http://dx.doi.org/10.1007/s12185-015-1856-3" target="_blank" >http://dx.doi.org/10.1007/s12185-015-1856-3</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12185-015-1856-3" target="_blank" >10.1007/s12185-015-1856-3</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML

Popis výsledku v původním jazyce

The DNA methyl-transferase 3A gene (DNMT3A) is the third most frequently mutated gene in cytogenetically normal acute myeloid leukemia (CN-AML) patients (20?30 %), who belong to a group of patients with intermediate risk. About 60 % of mutations in thisgene have been identified in the arginine codon R882. To date, there is no consensus on whether these mutations can be used as biomarkers for monitoring of minimal residual disease and management of preemptive AML therapy. We studied the occurrence of mutations in the DNMT3A gene in our cohort of patients and their persistence during AML treatment. Using next-generation sequencing, we identified four mutations in 11/25 of our analyzed patients?frequent R882C and R882H mutations, rare Y735S mutation, anda novel L347P mutation. Mutation R882C was detected in 5/11, R882H in 4/11 patients, and Y735S and L347P in one patient each.

Název v anglickém jazyce

Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML

Popis výsledku anglicky

The DNA methyl-transferase 3A gene (DNMT3A) is the third most frequently mutated gene in cytogenetically normal acute myeloid leukemia (CN-AML) patients (20?30 %), who belong to a group of patients with intermediate risk. About 60 % of mutations in thisgene have been identified in the arginine codon R882. To date, there is no consensus on whether these mutations can be used as biomarkers for monitoring of minimal residual disease and management of preemptive AML therapy. We studied the occurrence of mutations in the DNMT3A gene in our cohort of patients and their persistence during AML treatment. Using next-generation sequencing, we identified four mutations in 11/25 of our analyzed patients?frequent R882C and R882H mutations, rare Y735S mutation, anda novel L347P mutation. Mutation R882C was detected in 5/11, R882H in 4/11 patients, and Y735S and L347P in one patient each.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

<a href="/cs/project/EE2.3.30.0037" target="_blank" >EE2.3.30.0037: Zaměstnáním nejlepších mladých vědců k rozvoji mezinárodní spolupráce</a><br>

Návaznosti

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

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

International Journal of Hematology

ISSN

0925-5710

e-ISSN

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Svazek periodika

102

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

JP - Japonsko

Počet stran výsledku

5

Strana od-do

553-557

Kód UT WoS článku

000364706700008

EID výsledku v databázi Scopus

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