Open AccessCase Report
Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
by
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 and Lorna Rodriguez-Rodriguez
J. Pers. Med. 2014, 4(3), 402-411; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm4030402 (registering DOI) - 15 Jul 2014
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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
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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.
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