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@ARTICLE{Lipka:131643,
author = {D. B. Lipka$^*$ and T. Witte$^*$ and R. Toth$^*$ and J.
Yang$^*$ and M. Wiesenfarth$^*$ and P. Nöllke and A.
Fischer and D. Brocks$^*$ and Z. Gu$^*$ and J. Park$^*$ and
B. Strahm and M. Wlodarski and A. Yoshimi and R. Claus and
M. Lübbert and H. Busch and M. Boerries and M. Hartmann$^*$
and M. Schönung$^*$ and U. Kilik$^*$ and J. Langstein$^*$
and J. A. Wierzbinska$^*$ and C. Pabst and S. Garg and A.
Catalá and B. De Moerloose and M. Dworzak and H. Hasle and
F. Locatelli and R. Masetti and M. Schmugge and O. Smith and
J. Stary and M. Ussowicz and M. M. van den Heuvel-Eibrink
and Y. Assenov$^*$ and M. Schlesner$^*$ and C. Niemeyer and
C. Flotho and C. Plass},
title = {{RAS}-pathway mutation patterns define epigenetic
subclasses in juvenile myelomonocytic leukemia.},
journal = {Nature Communications},
volume = {8},
number = {1},
issn = {2041-1723},
address = {London},
publisher = {Nature Publishing Group},
reportid = {DKFZ-2017-06275},
pages = {2126},
year = {2017},
note = {(* Co-first authors)},
abstract = {Juvenile myelomonocytic leukemia (JMML) is an aggressive
myeloproliferative disorder of early childhood characterized
by mutations activating RAS signaling. Established clinical
and genetic markers fail to fully recapitulate the clinical
and biological heterogeneity of this disease. Here we report
DNA methylome analysis and mutation profiling of 167 JMML
samples. We identify three JMML subgroups with unique
molecular and clinical characteristics. The high methylation
group (HM) is characterized by somatic PTPN11 mutations and
poor clinical outcome. The low methylation group is enriched
for somatic NRAS and CBL mutations, as well as for Noonan
patients, and has a good prognosis. The intermediate
methylation group (IM) shows enrichment for monosomy 7 and
somatic KRAS mutations. Hypermethylation is associated with
repressed chromatin, genes regulated by RAS signaling,
frequent co-occurrence of RAS pathway mutations and
upregulation of DNMT1 and DNMT3B, suggesting a link between
activation of the DNA methylation machinery and mutational
patterns in JMML.},
cin = {C010 / B080 / B240 / C060 / L601 / L101},
ddc = {500},
cid = {I:(DE-He78)C010-20160331 / I:(DE-He78)B080-20160331 /
I:(DE-He78)B240-20160331 / I:(DE-He78)C060-20160331 /
I:(DE-He78)L601-20160331 / I:(DE-He78)L101-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29259247},
pmc = {pmc:PMC5736667},
doi = {10.1038/s41467-017-02177-w},
url = {https://inrepo02.dkfz.de/record/131643},
}