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@ARTICLE{Holdhof:166501,
      author       = {D. Holdhof and P. D. Johann$^*$ and M. Spohn and M.
                      Bockmayr and S. Safaei and P. Joshi$^*$ and J.
                      Masliah-Planchon and B. Ho and M. Andrianteranagna and F.
                      Bourdeaut and A. Huang and M. Kool$^*$ and S. A. Upadhyaya
                      and A. E. Bendel and D. Indenbirken and W. D. Foulkes and J.
                      W. Bush and D. Creytens and U. Kordes and M. C. Frühwald
                      and M. Hasselblatt and U. Schüller},
      title        = {{A}typical teratoid/rhabdoid tumors ({ATRT}s) with
                      {SMARCA}4 mutation are molecularly distinct from
                      {SMARCB}1-deficient cases.},
      journal      = {Acta neuropathologica},
      volume       = {142},
      number       = {2},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2020-02944},
      pages        = {291-301},
      year         = {2021},
      note         = {2021 Feb;141(2):291-301},
      abstract     = {Atypical teratoid/rhabdoid tumors (ATRTs) are very
                      aggressive childhood malignancies of the central nervous
                      system. The underlying genetic cause are inactivating
                      bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4.
                      ATRT-SMARCA4 have been associated with a higher frequency of
                      germline mutations, younger age, and an inferior prognosis
                      in comparison to SMARCB1 mutated cases. Based on their DNA
                      methylation profiles and transcriptomics, SMARCB1 mutated
                      ATRTs have been divided into three distinct molecular
                      subgroups: ATRT-TYR, ATRT-SHH, and ATRT-MYC. These subgroups
                      differ in terms of age at diagnosis, tumor location, type of
                      SMARCB1 alterations, and overall survival. ATRT-SMARCA4 are,
                      however, less well understood, and it remains unknown,
                      whether they belong to one of the described ATRT subgroups.
                      Here, we examined 14 ATRT-SMARCA4 by global DNA methylation
                      analyses. We show that they form a separate group
                      segregating from SMARCB1 mutated ATRTs and from other
                      SMARCA4-deficient tumors like small cell carcinoma of the
                      ovary, hypercalcemic type (SCCOHT) or SMARCA4 mutated
                      extra-cranial malignant rhabdoid tumors. In contrast,
                      medulloblastoma (MB) samples with heterozygous SMARCA4
                      mutations do not group separately, but with established MB
                      subgroups. RNA sequencing of ATRT-SMARCA4 confirmed the
                      clustering results based on DNA methylation profiling and
                      displayed an absence of typical signature genes upregulated
                      in SMARCB1 deleted ATRT. In summary, our results suggest
                      that, in line with previous clinical observations,
                      ATRT-SMARCA4 should be regarded as a distinct molecular
                      subgroup.},
      keywords     = {ATRT (Other) / BRG1 (Other) / DNA methylation (Other) / RNA
                      sequencing (Other) / Rhabdoid (Other) / SMARCA4 (Other)},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33331994},
      doi          = {10.1007/s00401-020-02250-7},
      url          = {https://inrepo02.dkfz.de/record/166501},
}