The genetic landscape of ganglioglioma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Melike Pekmezci, Javier E. Villanueva-Meyer, Benjamin Goode, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Gabriel Chamyan, Ossama M. Maher, Ziad Khatib, Bette K. Kleinschmidt-DeMasters, David Samuel, Sabine Mueller, Anuradha Banerjee, Jennifer L. Clarke, Tabitha Cooney, Joseph Torkildson, Nalin Gupta, Philip Theodosopoulos, Edward F. Chang, Mitchel Berger, Andrew W. Bollen, Arie Perry, Tarik Tihan, David A. Solomon

ABSTRACT

Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutation in the BRAF oncogene, the genetic alterations responsible for the remainder are largely unknown, as is the spectrum of any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing that provides comprehensive assessment of mutations, gene fusions, and copy number alterations on a cohort of 40 gangliogliomas. Thirty-six harbored mutations predicted to activate the MAP kinase signaling pathway, including 18 with BRAF p.V600E mutation, 5 with variant BRAF mutation (including 4 cases with novel in-frame insertions at p.R506 in the β3-αC loop of the kinase domain), 4 with BRAF fusion, 2 with KRAS mutation, 1 with RAF1 fusion, 1 with biallelic NF1 mutation, and 5 with FGFR1/2 alterations. Three gangliogliomas with BRAF p.V600E mutation had concurrent CDKN2A homozygous deletion and one additionally harbored a subclonal mutation in PTEN. Otherwise, no additional pathogenic mutations, fusions, amplifications, or deletions were identified in any of the other tumors. Amongst the 4 gangliogliomas without canonical MAP kinase pathway alterations identified, one epilepsy-associated tumor in the temporal lobe of a young child was found to harbor a novel ABL2-GAB2 gene fusion. The underlying genetic alterations did not show significant association with patient age or disease progression/recurrence in this cohort. Together, this study highlights that ganglioglioma is characterized by genetic alterations that activate the MAP kinase pathway, with only a small subset of cases that harbor additional pathogenic alterations such as CDKN2A deletion. More... »

PAGES

47

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s40478-018-0551-z

    DOI

    http://dx.doi.org/10.1186/s40478-018-0551-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1104468379

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29880043


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