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@ARTICLE{Korshunov:136747,
      author       = {A. Korshunov$^*$ and F. Sahm$^*$ and D. Stichel$^*$ and D.
                      Schrimpf$^*$ and M. Ryzhova and O. Zheludkova and A. Golanov
                      and P. Lichter$^*$ and D. Jones$^*$ and A. von Deimling$^*$
                      and S. Pfister$^*$ and M. Kool$^*$},
      title        = {{M}olecular characterization of medulloblastomas with
                      extensive nodularity ({MBEN}).},
      journal      = {Acta neuropathologica},
      volume       = {136},
      number       = {2},
      issn         = {1432-0533},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2018-01185},
      pages        = {303 - 313},
      year         = {2018},
      abstract     = {Medulloblastoma with extensive nodularity (MBEN) is a rare
                      histological variant of medulloblastoma (MB). These tumors
                      are usually occurring in the first 3 years of life and are
                      associated with good prognosis. Molecular analyses of MBEN,
                      mostly limited to single cases or small series, have shown
                      that they always classify as sonic hedgehog (SHH)-driven MB.
                      Here, we have analyzed 25 MBEN through genome-wide DNA
                      methylation, copy-number profiling and targeted
                      next-generation sequencing. Results of these analyses were
                      compared with molecular profiles of other SHH MB
                      histological variants. As expected, the vast majority of
                      MBEN (23/25) disclosed SHH-associated epigenetic signatures
                      and mutational landscapes but, surprisingly, two MBEN were
                      classified as Group 3/4 MB. Most MBEN classified as SHH MB
                      displayed SHH-related and mutually exclusive mutations in
                      either SUFU, or PTCH1, or SMO at similar frequencies.
                      However, only SUFU mutations were also identified in the
                      germ-line. Most of SUFU-associated MBEN eventually recurred
                      but patients were treated successfully with second-line
                      high-dose chemotherapy. Altogether, our data show that risk
                      stratification even for well-recognizable histologies such
                      as MBEN cannot rely on histology alone but should include
                      additional molecular analyses such as methylation profiling
                      and DNA sequencing. For all patients with 'MBEN' histology,
                      we recommend sequencing SUFU and PTCH1 in the tumor as well
                      as in the germ-line for further clinical stratification and
                      choice of the optimal treatment strategy upfront.},
      cin          = {G380 / L101 / B060 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)G380-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)B060-20160331 / 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:29569031},
      doi          = {10.1007/s00401-018-1840-0},
      url          = {https://inrepo02.dkfz.de/record/136747},
}