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December 10, 2019; 93 (24) Clinical/Scientific Notes

NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events

View ORCID ProfileWing H. Wong, View ORCID ProfileLarry Junck, View ORCID ProfileTodd E. Druley, View ORCID ProfileDavid H. Gutmann
First published November 5, 2019, DOI: https://doi.org/10.1212/WNL.0000000000008623
Wing H. Wong
From the Division of Hematology and Oncology (W.H.W., T.E.D.), Department of Pediatrics, Washington University School of Medicine; Edison Family Center for Genome Sciences and Systems Biology (W.H.W., T.E.D.), Washington University School of Medicine, St. Louis, MO; Department of Neurology (L.J.), University of Michigan Health System, Ann Arbor; Department of Neurology (D.H.G.), Washington University School of Medicine, St. Louis, MO.
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  • ORCID record for Wing H. Wong
Larry Junck
From the Division of Hematology and Oncology (W.H.W., T.E.D.), Department of Pediatrics, Washington University School of Medicine; Edison Family Center for Genome Sciences and Systems Biology (W.H.W., T.E.D.), Washington University School of Medicine, St. Louis, MO; Department of Neurology (L.J.), University of Michigan Health System, Ann Arbor; Department of Neurology (D.H.G.), Washington University School of Medicine, St. Louis, MO.
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Todd E. Druley
From the Division of Hematology and Oncology (W.H.W., T.E.D.), Department of Pediatrics, Washington University School of Medicine; Edison Family Center for Genome Sciences and Systems Biology (W.H.W., T.E.D.), Washington University School of Medicine, St. Louis, MO; Department of Neurology (L.J.), University of Michigan Health System, Ann Arbor; Department of Neurology (D.H.G.), Washington University School of Medicine, St. Louis, MO.
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David H. Gutmann
From the Division of Hematology and Oncology (W.H.W., T.E.D.), Department of Pediatrics, Washington University School of Medicine; Edison Family Center for Genome Sciences and Systems Biology (W.H.W., T.E.D.), Washington University School of Medicine, St. Louis, MO; Department of Neurology (L.J.), University of Michigan Health System, Ann Arbor; Department of Neurology (D.H.G.), Washington University School of Medicine, St. Louis, MO.
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NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events
Wing H. Wong, Larry Junck, Todd E. Druley, David H. Gutmann
Neurology Dec 2019, 93 (24) 1067-1069; DOI: 10.1212/WNL.0000000000008623

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Although glioblastoma (GBM) is a common malignant brain tumor in older adults in the general population, the incidence of GBM is increased in the neurofibromatosis 1 (NF1) cancer predisposition syndrome, where it tends to arise decades earlier relative to its sporadic counterparts.1 In contrast to nonsyndromic GBM, NF1-GBM is presumed to arise in the setting of biallelic NF1 inactivation (germline variant and a subsequent somatic mutation).2 Because GBM is rare in patients with NF1, the limited number of cases reported has precluded an analysis of tumor ontogeny and evolution. Herein, we leveraged a unique opportunity in which multiple brain samples were obtained at autopsy from a young adult male with a clinical diagnosis of generalized NF1 (established at age 3 years) who died of GBM. When this 27-year-old man initially presented with behavioral changes, neuroimaging revealed a bithalamic tumor (figure 1A), which was pathologically classified as a grade IV astrocytoma (GBM) by stereotactic biopsy. He was treated with cranial radiation and chemotherapy, but exhibited progressive tumor growth and died 39 months after initial diagnosis. At autopsy under an approved IRB protocol, a representative non-neoplastic sample from an unaffected brain region and 5 distinct neoplastic lesions, including thalamus (4 independent samples), anterior commissure (2 independent samples), septum pellucidum (2 independent samples), amygdala (2 independent samples), and cerebellum (1 sample), were obtained.

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  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Data availability: raw whole-exome sequencing data were deposited in the NCBI short read archive and can be publicly accessed via the accession number PRJNA540532. All other relevant data are included in the main text and data available from Dryad (supplementary data): doi.org/10.5061/dryad.t7109jf.

  • Received June 12, 2019.
  • Accepted in final form September 6, 2019.
  • © 2019 American Academy of Neurology
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