RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292956" target="_blank" >RIV/00064203:_____/14:10292956 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292956
Result on the web
<a href="http://dx.doi.org/10.4161/epi.29941" target="_blank" >http://dx.doi.org/10.4161/epi.29941</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4161/epi.29941" target="_blank" >10.4161/epi.29941</a>
Alternative languages
Result language
angličtina
Original language name
RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia
Original language description
Aberrant DNA methylation at specific genetic loci is a key molecular feature of juvenile myelomonocytic leukemia (JMML) with poor prognosis. Using quantitative high-resolution mass spectrometry, we identified RASA4 isoform 2, which maps to chromosome 7 and encodes a member of the GAP1 family of GTPase-activating proteins for small G proteins, as a recurrent target of isoform-specific DNA hypermethylation in JMML (51% of 125 patients analyzed). RASA4 isoform 2 promoter methylation correlated with clinical parameters predicting poor prognosis (older age, elevated fetal hemoglobin), with higher risk of relapse after hematopoietic stem cell transplantation, and with PTPN11 mutation. The level of isoform 2 methylation increased in relapsed cases after transplantation. Interestingly, most JMML cases with monosomy 7 exhibited hypermethylation on the remaining RASA4 allele. The results corroborate the significance of epigenetic modifications in the phenotype of aggressive JMML.
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
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Epigenetics
ISSN
1559-2294
e-ISSN
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Volume of the periodical
9
Issue of the periodical within the volume
9
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
1252-1260
UT code for WoS article
000342564500007
EID of the result in the Scopus database
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