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@ARTICLE{Korshunov:148284,
      author       = {A. Korshunov$^*$ and K. Okonechnikov$^*$ and F. Sahm$^*$
                      and M. Ryzhova and D. Stichel$^*$ and D. Schrimpf$^*$ and D.
                      R. Ghasemi$^*$ and K. W. Pajtler$^*$ and M. Antonelli and V.
                      Donofrio and A. Mastronuzzi and S. Rossi and F. D. Camassei
                      and A. M. Buccoliero and C. Haberler and I. Slavc and S.
                      Dahiya and B. Casalini$^*$ and P. Sievers$^*$ and J.
                      Meyer$^*$ and E. Kumirova and O. Zheludkova and A. Golanov
                      and D. T. W. Jones$^*$ and S. M. Pfister$^*$ and M. Kool$^*$
                      and A. von Deimling$^*$},
      title        = {{T}ranscriptional profiling of medulloblastoma with
                      extensive nodularity ({MBEN}) reveals two clinically
                      relevant tumor subsets with {VSNL}1 as potent prognostic
                      marker.},
      journal      = {Acta neuropathologica},
      volume       = {139},
      number       = {3},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-02850},
      pages        = {583-596},
      year         = {2020},
      note         = {2020 Mar;139(3):583-596.#EA:B300#LA:B300#},
      abstract     = {Medulloblastoma with extensive nodularity (MBEN) is one of
                      the few central nervous system (CNS) tumor entities
                      occurring in infants which is traditionally associated with
                      good to excellent prognosis. Some MBEN, however, have been
                      reported with an unfavorable clinical course. We performed
                      an integrated DNA/RNA-based molecular analysis of a
                      multi-institutional MBEN cohort (n = 41) to identify
                      molecular events which might be responsible for variability
                      in patients' clinical outcomes. RNA sequencing analysis of
                      this MBEN cohort disclosed two clear transcriptome clusters
                      (TCL) of these CNS tumors: 'TCL1 MBEN' and 'TCL2 MBEN' which
                      were associated with various gene expression signatures,
                      mutational landscapes and, importantly, prognosis. Thus, the
                      clinically unfavorable 'TCL1 MBEN' subset revealed
                      transcriptome signatures composed of cancer-associated
                      signaling pathways and disclosed a high frequency of
                      clinically relevant germline PTCH1/SUFU alterations. In
                      contrast, gene expression profiles of tumors from the
                      clinically favorable 'TCL2 MBEN' subgroup were associated
                      with activation of various neurometabolic and
                      neurotransmission signaling pathways, and germline
                      SHH-pathway gene mutations were extremely rare in this
                      transcriptome cluster. 'TCL2 MBEN' also revealed strong and
                      ubiquitous expression of VSNL1 (visinin-like protein 1) both
                      at the mRNA and protein level, which was correlated with a
                      favorable clinical course. Thus, combining mutational and
                      epigenetic profiling with transcriptome analysis including
                      VSNL1 immunohistochemistry, MBEN patients could be
                      stratified into clinical risk groups of potential value for
                      subsequent treatment planning.},
      cin          = {B300 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / 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:31781912},
      doi          = {10.1007/s00401-019-02102-z},
      url          = {https://inrepo02.dkfz.de/record/148284},
}