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@ARTICLE{Lindsey:127019,
author = {J. C. Lindsey and D. Kawauchi$^*$ and E. C. Schwalbe and D.
J. Solecki and M. P. Selby and P. J. McKinnon and J. M.
Olson and J. T. Hayden and R. G. Grundy and D. W. Ellison
and D. Williamson and S. Bailey and M. F. Roussel and S. C.
Clifford},
title = {{C}ross-species epigenetics identifies a critical role for
{VAV}1 in {SHH} subgroup medulloblastoma maintenance.},
journal = {Oncogene},
volume = {34},
number = {36},
issn = {1476-5594},
address = {Basingstoke},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2017-03045},
pages = {4746 - 4757},
year = {2015},
abstract = {The identification of key tumorigenic events in Sonic
Hedgehog (SHH) subgroup medulloblastomas (MBSHH) will be
essential for the development of individualized therapies
and improved outcomes. However, beyond confirmation of
characteristic SHH pathway mutations, recent genome-wide
sequencing studies have not revealed commonly mutated genes
with widespread relevance as potential therapeutic targets.
We therefore examined any role for epigenetic DNA
methylation events in MBSHH using a cross-species approach
to candidate identification, prioritization and validation.
MBSHH-associated DNA methylation events were first
identified in 216 subgrouped human medulloblastomas (50
MBSHH, 28 Wnt/Wingless, 44 Group 3 and 94 Group 4) and their
conservation then assessed in tumors arising from four
independent murine models of Shh medulloblastoma, alongside
any role in tumorigenesis using functional assessments in
mouse and human models. This strategy identified widespread
regional CpG hypo-methylation of VAV1, leading to its
elevated expression, as a conserved aberrant epigenetic
event, which characterizes the majority of MBSHH tumors in
both species, and is associated with a poor outcome in MBSHH
patients. Moreover, direct modulation of VAV1 in mouse and
human models revealed a critical role in tumor maintenance,
and its abrogation markedly reduced medulloblastoma growth.
Further, Vav1 activity regulated granule neuron precursor
germinal zone exit and migration initiation in an ex vivo
model of early postnatal cerebellar development. These
findings establish VAV1 as a critical epigenetically
regulated oncogene with a key role in MBSHH maintenance, and
highlight its potential as a validated therapeutic target
and prognostic biomarker for the improved therapy of
medulloblastoma.},
keywords = {Proto-Oncogene Proteins c-vav (NLM Chemicals) / VAV1
protein, human (NLM Chemicals)},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25531316},
pmc = {pmc:PMC4386991},
doi = {10.1038/onc.2014.405},
url = {https://inrepo02.dkfz.de/record/127019},
}