% 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{Hench:275613,
      author       = {J. Hench and D. Mihic-Probst and A. Agaimy and S. Frank and
                      P. Meyer and C. Hultschig and S. Simi and L. Alos and T.
                      Balamurugan and W. Blokx and F. Bosisio and R. Cappellesso
                      and K. Griewank$^*$ and E. Hadaschik$^*$ and L. C. van
                      Kempen and W. Kempf and M. Lentini and L. Mazzucchelli and
                      G. Rinaldi and P. Rutkowski and D. Schadendorf$^*$ and B.
                      Schilling and A. Szumera-Cieckiewicz and J. van den Oord and
                      M. Mandalà and D. Massi},
      collaboration = {E. M. Group},
      title        = {{C}linical, histopathological and molecular features of
                      dedifferentiated melanomas: {A}n {EORTC} {M}elanoma {G}roup
                      {R}etrospective {A}nalysis.},
      journal      = {European journal of cancer},
      volume       = {187},
      issn         = {0014-2964},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2023-00819},
      pages        = {7 - 14},
      year         = {2023},
      abstract     = {Dedifferentiated melanoma (DedM) poses significant
                      diagnostic challenges. We aimed to investigate the clinical,
                      histopathological and molecular features of DedM.
                      Methylation signature (MS) and copy number profiling (CNP)
                      were carried out in a subgroup of cases.A retrospective
                      series of 78 DedM tissue samples from 61 patients retrieved
                      from EORTC (European Organisation for Research and Treatment
                      of Cancer) Melanoma Group centres were centrally reviewed.
                      Clinical and histopathological features were retrieved. In a
                      subgroup of patients, genotyping through Infinium
                      Methylation microarray and CNP analysis was carried out.Most
                      patients (60/61) had a metastatic DedM showing most
                      frequently an unclassified pleomorphic, spindle cell, or
                      small round cell morphology akin to undifferentiated soft
                      tissue sarcoma, rarely associated with heterologous
                      elements. Overall, among 20 successfully analysed tissue
                      samples from 16 patients, we found retained melanoma-like MS
                      in only 7 tissue samples while a non-melanoma-like MS was
                      observed in 13 tissue samples. In two patients from whom
                      multiple specimens were analysed, some of the samples had a
                      preserved cutaneous melanoma MS while other specimens
                      exhibited an epigenetic shift towards a
                      mesenchymal/sarcoma-like profile, matching the histological
                      features. In these two patients, CNP was largely identical
                      across all analysed specimens, in line with their common
                      clonal origin, despite significant modification of their
                      epigenome.Our study further highlights that DedM represents
                      a real diagnostic challenge. While MS and genomic CNP may
                      help pathologists to diagnose DedM, we provide
                      proof-of-concept that dedifferentiation in melanoma is
                      frequently associated with epigenetic modifications.},
      keywords     = {Copy number profiling (Other) / DNA methylation (Other) /
                      Dedifferentiated melanoma (Other) / Epigenetics (Other)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37098294},
      doi          = {10.1016/j.ejca.2023.03.032},
      url          = {https://inrepo02.dkfz.de/record/275613},
}