Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML
The result's identifiers
Result code in 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>
Alternative codes found
RIV/65269705:_____/15:00063755
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/EE2.3.30.0037" target="_blank" >EE2.3.30.0037: Employment of Best Young Scientists for International Cooperation Empowerment</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Hematology
ISSN
0925-5710
e-ISSN
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Volume of the periodical
102
Issue of the periodical within the volume
5
Country of publishing house
JP - JAPAN
Number of pages
5
Pages from-to
553-557
UT code for WoS article
000364706700008
EID of the result in the Scopus database
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