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J. Pers. Med. 2014, 4(3), 402-411; https://doi.org/10.3390/jpm4030402

Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer

1
Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA
2
Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08901, USA
3
Rutgers Robert Wood Johnson Medical School, 1 Robert Wood Johnson Place-MEB 212, New Brunswick, NJ 08903, USA
4
University Radiology Group, 579-A Cranbury Road, East Brunswick, NJ 08816, USA
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 21 March 2014 / Revised: 3 June 2014 / Accepted: 27 June 2014 / Published: 15 July 2014
(This article belongs to the Special Issue Bringing Personalized Medicine into Clinical Practice 2013)
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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 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. View Full-Text
Keywords: glioblastoma; pediatric glioma; metastatic glioma; gene mutation; next generation sequencing; BRAF V600E; vemurafenib; CKDN2A glioblastoma; pediatric glioma; metastatic glioma; gene mutation; next generation sequencing; BRAF V600E; vemurafenib; CKDN2A
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This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).
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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. Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer. J. Pers. Med. 2014, 4, 402-411.

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