% 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{Koelsche:143492,
      author       = {C. Koelsche and D. Stichel$^*$ and K. G. Griewank and D.
                      Schrimpf$^*$ and D. E. Reuss$^*$ and M. Bewerunge-Hudler$^*$
                      and C. Vokuhl and W. N. M. Dinjens and I. Petersen and M.
                      Mittelbronn and A. Cuevas-Bourdier and R. Buslei and S.
                      Pfister$^*$ and U. Flucke and G. Mechtersheimer and T.
                      Mentzel and A. von Deimling$^*$},
      title        = {{G}enome-wide methylation profiling and copy number
                      analysis in atypical fibroxanthomas and pleomorphic dermal
                      sarcomas indicate a similar molecular phenotype.},
      journal      = {Clinical Sarcoma Research},
      volume       = {9},
      number       = {1},
      issn         = {2045-3329},
      address      = {London},
      publisher    = {BioMed Central},
      reportid     = {DKFZ-2019-01079},
      pages        = {2},
      year         = {2019},
      abstract     = {Atypical fibroxanthomas (AFX) and pleomorphic dermal
                      sarcomas (PDS) are lesions of the skin with overlapping
                      histologic features and unspecific molecular traits. PDS
                      behaves aggressive compared to AFX. Thus, a precise
                      delineation, although challenging in some instances, is
                      relevant.We examined the value of DNA-methylation profiling
                      and copy number analysis for separating these tumors.
                      DNA-methylation data were generated from 17 AFX and 15 PDS
                      using the Illumina EPIC array. These were compared with
                      DNA-methylation data generated from 196 tumors encompassing
                      potential histologic mimics like cutaneous squamous
                      carcinomas (cSCC; n = 19), basal cell carcinomas
                      (n = 10), melanoma metastases originating from the skin
                      (n = 11), leiomyosarcomas (n = 11), angiosarcomas of
                      the skin and soft tissue (n = 11), malignant peripheral
                      nerve sheath tumors (n = 19), dermatofibrosarcomas
                      protuberans (n = 13), extraskeletal myxoid
                      chondrosarcomas (n = 9), myxoid liposarcomas
                      (n = 14), schwannomas (n = 10), neurofibromas
                      (n = 21), alveolar (n = 19) and embryonal
                      (n = 17) rhabdomyosarcomas as well as undifferentiated
                      pleomorphic sarcomas (n = 12).DNA-methylation profiling
                      did not separate AFX from PDS. The DNA-methylation profiles
                      of the other cases, however, were distinct from AFX/PDS.
                      They reliably assigned to subtype-specific DNA-methylation
                      clusters, although overlap occurred between some AFX/PDS and
                      cSCC. Copy number profiling revealed alterations in a
                      similar frequency and distribution between AFX and PDS. They
                      involved losses of 9p (22/32) and 13q (25/32). Gains
                      frequently involved 8q (8/32). Notably, a homozygous
                      deletion of CDKN2A was more frequent in PDS (6/15) than in
                      AFX (2/17), whereas amplifications were non-recurrent and
                      overall rare (5/32).Our findings support the concept that
                      AFX and PDS belong to a common tumor spectrum. We could
                      demonstrate the diagnostic value of DNA-methylation
                      profiling to delineating AFX/PDS from potential mimics.
                      However, the assessment of certain histologic features
                      remains crucial for separating PDS from AFX.},
      cin          = {B300 / W110 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)W110-20160331 /
                      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:30809375},
      pmc          = {pmc:PMC6375211},
      doi          = {10.1186/s13569-019-0113-6},
      url          = {https://inrepo02.dkfz.de/record/143492},
}