Next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer

John Glod, Mihae Song, Archana Sharma, Rachana Tyagi, Roy H. Rhodes, David J. Weissmann, Sudipta Roychowdhury, Atif Khan, Michael P. Kane, Kim Hirshfield, Shridar Ganesan, Robert S. DiPaola, Lorna Rodriguez-Rodriguez

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.

Original languageEnglish (US)
Pages (from-to)402-411
Number of pages10
JournalJournal of Personalized Medicine
Volume4
Issue number3
DOIs
StatePublished - Sep 2014

Keywords

  • BRAF V600E
  • CKDN2A
  • Gene mutation
  • Glioblastoma
  • Metastatic glioma
  • Next generation sequencing
  • Pediatric glioma
  • Vemurafenib

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    Glod, J., Song, M., Sharma, A., Tyagi, R., Rhodes, R. H., Weissmann, D. J., Roychowdhury, S., Khan, A., Kane, M. P., Hirshfield, K., Ganesan, S., DiPaola, R. S., & Rodriguez-Rodriguez, L. (2014). Next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer. Journal of Personalized Medicine, 4(3), 402-411. https://doi.org/10.3390/jpm4030402