Exomic sequencing of four rare central nervous system tumor types

Chetan Bettegowda, Nishant Agrawal, Yuchen Jiao, Yuxuan Wang, Laura D. Wood, Fausto J. Rodriguez, Ralph H. Hruban, Gary L. Gallia, Zev A. Binder, Callen J. Riggins, Vafi Salmasi, Gregory J. Riggins, Zachary J. Reitman, Ahmed Rasheed, Stephen Keir, Sueli Shinjo, Suely Marie, Roger McLendon, George Jallo, Bert VogelsteinDarell Bigner, Hai Yan, Kenneth W. Kinzler, Nickolas Papadopoulos

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


A heterogeneous population of uncommon neoplasms of the central nervous system (CNS) cause significant morbidity and mortality. To explore their genetic origins, we sequenced the exomes of 12 pleomorphic xanthoastrocytomas (PXA), 17 non-brainstem pediatric glioblastomas (PGBM), 8 intracranial ependymomas (IEP) and 8 spinal cord ependymomas (SCEP). Analysis of the mutational spectra revealed that the predominant single base pair substitution was a C:G>T:A transition in each of the four tumor types. Our data confirm the critical roles of several known driver genes within CNS neoplasms, including TP53 and ATRX in PGBM, and NF2 in SCEPs. Additionally, we show that activating BRAF mutations play a central role in both low and high grade glial tumors. Furthermore, alterations in genes coding for members of the mammalian target of rapamycin (mTOR) pathway were observed in 33% of PXA. Our study supports the hypothesis that pathologically similar tumors arising in different age groups and from different compartments may represent distinct disease processes with varied genetic composition.

Original languageEnglish (US)
Pages (from-to)572-583
Number of pages12
Issue number4
StatePublished - Apr 2013


  • Brain tumors
  • Cancer genetics
  • Central nervous system (CNS) tumors
  • Exome sequencing
  • Pediatric tumors

ASJC Scopus subject areas

  • Oncology


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