% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@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},
}