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BRAF V600E mutant oligodendroglioma-like tumors with chromosomal instability in adolescents and young adults.

  • Fukuoka, Kohei1
  • Mamatjan, Yasin2
  • Ryall, Scott3
  • Komosa, Martin4
  • Bennett, Julie1
  • Zapotocky, Michal1
  • Keith, Julia5
  • Myrehaug, Sten6
  • Hazrati, Lili-Naz7
  • Aldape, Kenneth2
  • Laperriere, Normand8
  • Bouffet, Eric1
  • Tabori, Uri1
  • Hawkins, Cynthia7
  • 1 Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. , (Canada)
  • 2 Princess Margaret Cancer Centre and MacFeeters, Hamilton Centre for Neuro-Oncology Research, Toronto, ON, Canada. , (Canada)
  • 3 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. , (Canada)
  • 4 Program in Genetics and Genome Biology, The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. , (Canada)
  • 5 Department of Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada. , (Canada)
  • 6 Department of Radiation Oncology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada. , (Canada)
  • 7 Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada. , (Canada)
  • 8 Department of Radiation Oncology, Princess Margaret Hospital, Toronto, ON, Canada. , (Canada)
Published Article
Brain Pathology
Wiley (Blackwell Publishing)
Publication Date
Oct 19, 2019
DOI: 10.1111/bpa.12799
PMID: 31630459


We performed genome-wide methylation analysis on 136 pediatric low-grade gliomas, identifying a unique cluster consisting of three tumors with oligodendroglioma-like histology, BRAF p.V600E mutations and recurrent whole chromosome gains of 7 and loss of 10. Morphologically, all showed similar features, including a diffusely infiltrative glioma composed of round nuclei with perinuclear halos, a chicken-wire pattern of branching capillaries and microcalcification. None showed astrocytic features or characteristics suggestive of high-grade tumors including necrosis or mitotic figures. All tumors harbored multiple chromosomal copy number abnormalities (>10 chromosomes altered), but none showed 1p/19q co-deletion or IDH1 p.R132H mutation. Hierarchical clustering and t-stochastic neighbor embedding analyses from DNA methylation data cluster them more closely to previously described pediatric-type low-grade gliomas and separate from adult gliomas. These tumors exhibit distinct clinical features; they are temporal lobe lesions occurring in adolescents and young adults with a prolonged history of seizures and all are alive with no recurrence (follow-up 3.2 to 13.2 years). We encountered another young adult case with quite similar pathological appearance and molecular status except for TERT promoter mutation. Although the series is small, these may represent a new category of IDH wild-type low-grade gliomas which may be confused with "molecular GBM." Further, they highlight the heterogeneity of IDH wild-type gliomas and the relatively indolent behavior of "pediatric-type" gliomas. © 2019 International Society of Neuropathology.

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