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@ARTICLE{Wefers:147249,
      author       = {A. Wefers$^*$ and D. Stichel$^*$ and D. Schrimpf$^*$ and R.
                      Coras and M. Pages and A. Tauziède-Espariat and P. Varlet
                      and D. Schwarz and F. Söylemezoglu and U. Pohl and J.
                      Pimentel and J. Meyer$^*$ and E. Hewer and A. Japp and A.
                      Joshi and D. E. Reuss$^*$ and A. Reinhardt$^*$ and P.
                      Sievers$^*$ and M. B. Casalini$^*$ and A. Ebrahimi$^*$ and
                      K. Huang$^*$ and C. Koelsche and H. L. Low and O. Rebelo and
                      D. Marnoto and A. J. Becker and O. Staszewski and M.
                      Mittelbronn and M. Hasselblatt and J. Schittenhelm and E.
                      Cheesman and R. S. de Oliveira and R. G. P. Queiroz and E.
                      T. Valera and V. H. Hans and A. Korshunov$^*$ and A. Olar
                      and K. L. Ligon and S. Pfister$^*$ and Z. Jaunmuktane and S.
                      Brandner and R. G. Tatevossian and D. W. Ellison and T. S.
                      Jacques and M. Honavar and E. Aronica and M. Thom and F.
                      Sahm$^*$ and A. von Deimling$^*$ and D. Jones$^*$ and I.
                      Blumcke and D. Capper$^*$},
      title        = {{I}somorphic diffuse glioma is a morphologically and
                      molecularly distinct tumour entity with recurrent gene
                      fusions of {MYBL}1 or {MYB} and a benign disease course.},
      journal      = {Acta neuropathologica},
      volume       = {139},
      number       = {1},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-02372},
      pages        = {193-209},
      year         = {2020},
      note         = {2020 Jan;139(1):193-209#EA:B300#},
      abstract     = {The 'isomorphic subtype of diffuse astrocytoma' was
                      identified histologically in 2004 as a supratentorial,
                      highly differentiated glioma with low cellularity, low
                      proliferation and focal diffuse brain infiltration. Patients
                      typically had seizures since childhood and all were operated
                      on as adults. To define the position of these lesions among
                      brain tumours, we histologically, molecularly and clinically
                      analysed 26 histologically prototypical isomorphic diffuse
                      gliomas. Immunohistochemically, they were GFAP-positive,
                      MAP2-, OLIG2- and CD34-negative, nuclear ATRX-expression was
                      retained and proliferation was low. All 24 cases sequenced
                      were IDH-wildtype. In cluster analyses of DNA methylation
                      data, isomorphic diffuse gliomas formed a group clearly
                      distinct from other glial/glio-neuronal brain tumours and
                      normal hemispheric tissue, most closely related to
                      paediatric MYB/MYBL1-altered diffuse astrocytomas and
                      angiocentric gliomas. Half of the isomorphic diffuse gliomas
                      had copy number alterations of MYBL1 or MYB (13/25, $52\%).$
                      Gene fusions of MYBL1 or MYB with various gene partners were
                      identified in 11/22 $(50\%)$ and were associated with an
                      increased RNA-expression of the respective MYB-family gene.
                      Integrating copy number alterations and available RNA
                      sequencing data, 20/26 $(77\%)$ of isomorphic diffuse
                      gliomas demonstrated MYBL1 $(54\%)$ or MYB $(23\%)$
                      alterations. Clinically, $89\%$ of patients were
                      seizure-free after surgery and all had a good outcome. In
                      summary, we here define a distinct benign tumour class
                      belonging to the family of MYB/MYBL1-altered gliomas.
                      Isomorphic diffuse glioma occurs both in children and
                      adults, has a concise morphology, frequent MYBL1 and MYB
                      alterations and a specific DNA methylation profile. As an
                      exclusively histological diagnosis may be very challenging
                      and as paediatric MYB/MYBL1-altered diffuse astrocytomas may
                      have the same gene fusions, we consider DNA methylation
                      profiling very helpful for their identification.},
      cin          = {B300 / B062 / B360 / BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)BE01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31563982},
      doi          = {10.1007/s00401-019-02078-w},
      url          = {https://inrepo02.dkfz.de/record/147249},
}