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

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.
AuthorsJohn 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
JournalJournal of personalized medicine (J Pers Med) Vol. 4 Issue 3 Pg. 402-11 (Jul 15 2014) ISSN: 2075-4426 [Print] Switzerland
PMID25563358 (Publication Type: Journal Article)

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