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@ARTICLE{Fahiminiya:125795,
author = {S. Fahiminiya and L. Witkowski and J. Nadaf and J.
Carrot-Zhang and C. Goudie and M. Hasselblatt and P. Johann
and M. Kool$^*$ and R. S. Lee and T. Gayden and C. W. M.
Roberts and J. A. Biegel and N. Jabado and J. Majewski and
W. D. Foulkes},
title = {{M}olecular analyses reveal close similarities between
small cell carcinoma of the ovary, hypercalcemic type and
atypical teratoid/rhabdoid tumor.},
journal = {OncoTarget},
volume = {7},
number = {2},
issn = {1949-2553},
address = {[S.l.]},
publisher = {Impact Journals LLC},
reportid = {DKFZ-2017-01919},
pages = {1732 - 1740},
year = {2016},
abstract = {Small cell carcinoma of the ovary, hypercalcemic type
(SCCOHT) is the most common undifferentiated ovarian
malignancy diagnosed in women under age 40. We and others
recently determined that germline and/or somatic deleterious
mutations in SMARCA4 characterize SCCOHT. Alterations in
this gene, or the related SWI/SNF chromatin remodeling gene
SMARCB1, have been previously reported in atypical
teratoid/rhabdoid tumors (ATRTs) and malignant rhabdoid
tumors (MRTs). To further describe the somatic landscape of
SCCOHT, we performed whole exome sequencing on 14 tumors and
their matched normal tissues and compared their genomic
alterations with those in ATRT and ovarian high grade serous
carcinoma (HGSC). We confirmed that SMARCA4 is the only
recurrently mutated gene in SCCOHT, and show that recurrent
allelic imbalance is observed exclusively on chromosome 19p,
where SMARCA4 resides. By comparing genomic alterations
between SCCOHT, ATRT and HGSC, we demonstrate that SCCOHTs,
like ATRTs, have a remarkably simple genome and harbor
significantly fewer somatic protein-coding mutations and
chromosomal alterations than HGSC. Furthermore, a comparison
of global DNA methylation profiles of 45 SCCOHTs, 65 ATRTs,
and 92 HGSCs demonstrates a strong epigenetic correlation
between SCCOHT and ATRT. Our results further confirm that
the genomic and epigenomic signatures of SCCOHT are more
similar to those of ATRT than HGSC, supporting our previous
hypothesis that SCCOHT is a rhabdoid tumor and should be
renamed MRT of the ovary. Furthermore, we conclude that
SMARCA4 inactivation is the main cause of SCCOHT, and that
new distinct therapeutic approaches should be developed to
specifically target this devastating tumor.},
keywords = {Nuclear Proteins (NLM Chemicals) / Transcription Factors
(NLM Chemicals) / SMARCA4 protein, human (NLM Chemicals) /
DNA Helicases (NLM Chemicals)},
cin = {B062 / L101},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:26646792},
pmc = {pmc:PMC4811493},
doi = {10.18632/oncotarget.6459},
url = {https://inrepo02.dkfz.de/record/125795},
}