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@ARTICLE{Johann:124447,
      author       = {P. Johann$^*$ and V. Hovestadt$^*$ and C. Thomas and A.
                      Jeibmann and K. Heß and S. Bens and F. Oyen and C. Hawkins
                      and C. R. Pierson and K. Aldape and S.-P. Kim and E. Widing
                      and D. Sumerauer and P. Hauser and F. van Landeghem and M.
                      Ryzhova and A. Korshunov$^*$ and D. Capper$^*$ and D.
                      Jones$^*$ and S. Pfister$^*$ and R. Schneppenheim and R.
                      Siebert and W. Paulus and M. C. Frühwald and M. Kool$^*$
                      and M. Hasselblatt},
      title        = {{C}ribriform neuroepithelial tumor: molecular
                      characterization of a {SMARCB}1-deficient non-rhabdoid tumor
                      with favorable long-term outcome.},
      journal      = {Brain pathology},
      volume       = {27},
      number       = {4},
      issn         = {1015-6305},
      address      = {Oxford},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2017-01324},
      pages        = {411 - 418},
      year         = {2017},
      abstract     = {Rhabdoid phenotype and loss of SMARCB1 expression in a
                      brain tumor are characteristic features of atypical
                      teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain
                      tumors showing cribriform growth pattern and SMARCB1 loss
                      have been designated cribriform neuroepithelial tumor
                      (CRINET). Small case series suggest that CRINETs may have a
                      relatively favorable prognosis. However, the long-term
                      outcome is unclear and it remains uncertain whether CRINET
                      represents a distinct entity or a variant of ATRT.
                      Therefore, 10 CRINETs were clinically and molecularly
                      characterized and compared with 10 ATRTs of each of three
                      recently described molecular subgroups (i.e. ATRT-TYR,
                      ATRT-SHH and ATRT-MYC) using Illumina Infinium
                      HumanMethylation450 arrays, FISH, MLPA, and sequencing.
                      Furthermore, outcome was compared to a larger cohort of 27
                      children with ATRT-TYR. Median age of the 6 boys and 4 girls
                      harboring a CRINET was 20 months. On histopathological
                      examination, all CRINETs demonstrated a cribriform growth
                      pattern and distinct tyrosinase staining. On unsupervised
                      cluster analysis of methylation data, all CRINETs examined
                      exclusively clustered within the ATRT-TYR molecular
                      subgroup. As ATRT-TYR, CRINETs mainly showed large
                      heterozygous 22q deletions (9/10) and SMARCB1 mutations of
                      the other allele. In two patients, SMARCB1 mutations were
                      also present in the germline. Estimated mean overall
                      survival in patients with CRINETs was 125 months $(95\%$
                      confidence interval 100-151 months) as compared to only 53
                      (33-74) months in patients with ATRTs of the ATRT-TYR
                      subgroup (Log-Rank P < 0.05). In conclusion, CRINET
                      represents a SMARCB1-deficient non-rhabdoid tumor, which
                      shares molecular similarities with the ATRT-TYR subgroup but
                      has distinct histopathological features and favorable
                      long-term outcome.},
      cin          = {B062 / L101 / B060 / G380},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)B060-20160331 / I:(DE-He78)G380-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27380723},
      doi          = {10.1111/bpa.12413},
      url          = {https://inrepo02.dkfz.de/record/124447},
}