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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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FD - Oncology and haematology

  • OECD FORD branch

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

  • 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