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@ARTICLE{Kommoss:154658,
      author       = {F. K. Kommoss and K. T. Chang and D. Stichel$^*$ and A.
                      Banito$^*$ and D. Jones$^*$ and C. Heilig$^*$ and S.
                      Fröhling$^*$ and F. Sahm$^*$ and A. Stenzinger and W.
                      Hartmann and G. Mechtersheimer and H.-P. Sinn and D. Schmidt
                      and F. K. Kommoss$^*$ and A. von Deimling$^*$ and C.
                      Koelsche},
      title        = {{E}ndometrial stromal sarcomas with {BCOR}-rearrangement
                      harbor {MDM}2 amplifications.},
      journal      = {The journal of pathology: clinical research},
      volume       = {6},
      number       = {3},
      issn         = {2056-4538},
      address      = {Chichester},
      publisher    = {Wiley},
      reportid     = {DKFZ-2020-00919},
      pages        = {178-184},
      year         = {2020},
      note         = {2020 Jul;6(3):178-184 / #LA:B300#},
      abstract     = {Recently a novel subtype of endometrial stromal sarcoma
                      (ESS) defined by recurrent genomic alterations involving
                      BCOR has been described (HGESS-BCOR). We identified a case
                      of HGESS-BCOR with a ZC3H7B-BCOR gene fusion, which harbored
                      an amplification of the MDM2 locus. This index case prompted
                      us to investigate MDM2 amplification in four additional
                      cases of HGESS-BCOR. Tumors were analyzed for MDM2
                      amplification by array-based profiling of copy number
                      alterations (CNAs) and fluorescence in situ hybridization
                      (FISH), as well as for MDM2 expression by
                      immunohistochemistry (IHC). Additionally, a cohort of other
                      mesenchymal uterine neoplasms, including 17 low-grade ESS, 6
                      classical high-grade ESS with YWHAE-rearrangement, 16
                      uterine tumors resembling ovarian sex cord tumors, 7 uterine
                      leiomyomas and 8 uterine leiomyosarcomas, was analyzed for
                      CNAs in MDM2. Copy number profiling identified amplification
                      of the 12q15 region involving the MDM2 locus in all five
                      HGESS-BCOR. Subsequent validation analyses of three tumors
                      confirmed MDM2 amplification using MDM2 FISH. Accordingly,
                      IHC showed MDM2 overexpression in all analyzed cases. None
                      of the other uterine neoplasms in our series, including
                      tumors that are in the histopathological differential
                      diagnoses of HGESS-BCOR, showed copy number gains of MDM2.
                      Together, our results indicate that HGESS-BCOR carries MDM2
                      amplifications, which has diagnostic implications and could
                      potentially be used for targeted therapies in these
                      clinically aggressive tumors.},
      cin          = {HD01 / B300 / B380 / B360 / B340},
      ddc          = {610},
      cid          = {I:(DE-He78)HD01-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)B380-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B340-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32352245},
      doi          = {10.1002/cjp2.165},
      url          = {https://inrepo02.dkfz.de/record/154658},
}