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@article{1313106,
author = {Ježíšková, Ivana and Musilová, Milena and Čulen, Martin and Foltánková, Veronika and Dvořáková, Dana and Mayer, Jiří and Ráčil, Zdeněk},
article_location = {Tokyo},
article_number = {5},
doi = {http://dx.doi.org/10.1007/s12185-015-1856-3},
keywords = {DNMT3A gene mutations; Next-generation sequencing; MRD; AML preleukemic stem cells},
language = {eng},
issn = {0925-5710},
journal = {International Journal of Hematology},
title = {Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML},
volume = {102},
year = {2015}
}
TY - JOUR
ID - 1313106
AU - Ježíšková, Ivana - Musilová, Milena - Čulen, Martin - Foltánková, Veronika - Dvořáková, Dana - Mayer, Jiří - Ráčil, Zdeněk
PY - 2015
TI - Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML
JF - International Journal of Hematology
VL - 102
IS - 5
SP - 553-557
EP - 553-557
PB - Springer Japan
SN - 09255710
KW - DNMT3A gene mutations
KW - Next-generation sequencing
KW - MRD
KW - AML preleukemic stem cells
N2 - 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 this gene 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, and a novel L347P mutation. Mutation R882C was detected in 5/11, R882H in 4/11 patients, and Y735S and L347P in one patient each. In 4/7 patients initially carrying mutations in the R882 codon, we found the persistence of mutations also during complete remission with, however, no correlation to AML kinetics. Our findings suggest that mutations in the DNMT3A gene can only be used as a biomarker for those AML patients in whom DNMT3A mutation is lost after therapy.
ER -
JEŽÍŠKOVÁ, Ivana, Milena MUSILOVÁ, Martin ČULEN, Veronika FOLTÁNKOVÁ, Dana DVOŘÁKOVÁ, Jiří MAYER a Zdeněk RÁČIL. Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML. \textit{International Journal of Hematology}. Tokyo: Springer Japan, 2015, roč.~102, č.~5, s.~553-557. ISSN~0925-5710. Dostupné z: https://dx.doi.org/10.1007/s12185-015-1856-3.
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