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@ARTICLE{Johann:132820,
      author       = {P. Johann$^*$ and S. Bens and F. Oyen and R. Wagener and C.
                      Giannini and A. Perry and J. M. Raisanen and G. F. Reis and
                      S. Nobusawa and K. Arita and J. Felsberg and G.
                      Reifenberger$^*$ and A. Agaimy and R. Buslei and D. Capper
                      and S. Pfister$^*$ and R. Schneppenheim and R. Siebert and
                      M. C. Frühwald and W. Paulus and M. Kool$^*$ and M.
                      Hasselblatt},
      title        = {{S}ellar {R}egion {A}typical {T}eratoid/{R}habdoid {T}umors
                      ({ATRT}) in {A}dults {D}isplay {DNA} {M}ethylation
                      {P}rofiles of the {ATRT}-{MYC} {S}ubgroup.},
      journal      = {The American journal of surgical pathology},
      volume       = {42},
      number       = {4},
      issn         = {0147-5185},
      address      = {Philadelphia, Pa.},
      publisher    = {Lippincott Williams $\&$ Wilkins},
      reportid     = {DKFZ-2018-00464},
      pages        = {506 - 511},
      year         = {2018},
      abstract     = {Atypical teratoid/rhabdoid tumor (ATRT) is a highly
                      malignant brain tumor predominantly encountered in infants.
                      Mutations of the SMARCB1 gene are the characteristic genetic
                      lesion. A small group of ATRT stands out clinically, because
                      these tumors are located in the sellar region of adults. To
                      investigate if sellar region ATRT in adults represents a
                      molecular distinct entity, we characterized molecular
                      alterations in 7 sellar region ATRTs in adults as compared
                      with 150 pediatric ATRTs and 47 pituitary adenomas using
                      SMARCB1 sequencing, multiplex ligation-dependent probe
                      amplification and fluorescence in situ hybridization as well
                      as DNA methylation profiling. The median age of the 6 female
                      and 1 male patients was 56 years. On histopathologic
                      examination, all tumors were malignant rhabdoid tumors
                      showing loss of SMARCB1/INI1 protein expression. Two cases
                      displayed compound heterozygous SMARCB1 point mutations, 3
                      cases showed heterozygous SMARCB1 deletions with point
                      mutations of the other allele and 1 case a homozygous
                      SMARCB1 deletion; in 1 case, underlying SMARCB1 alterations
                      could not be identified. On unsupervised hierarchical
                      cluster analysis of DNA methylation profiles, sellar region
                      ATRTs did not form a distinct group, but clustered with
                      ATRT-MYC, 1 of 3 recently described molecular subgroups of
                      ATRT. On analysis of DNA methylation array intensity data,
                      only 1 sellar region ATRT showed characteristic features of
                      pediatric ATRT-MYC, that is, major copy number losses
                      affecting the SMARCB1 region. In conclusion, these results
                      suggest that sellar region ATRTs in adults form a clinically
                      distinct entity with a different mutational spectrum, but
                      epigenetic similarities with pediatric ATRTs of the ATRT-MYC
                      subgroup.},
      cin          = {B062 / L101 / L401},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)L401-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29324471},
      doi          = {10.1097/PAS.0000000000001023},
      url          = {https://inrepo02.dkfz.de/record/132820},
}