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

Journal of Personalized Medicine

John Glod²  Mihae Song⁴  Archana Sharma²  Rachana Tyagi⁴  Roy H. Rhodes³  David J. Weissmann³  Sudipta Roychowdhury¹  Atif Khan²  Michael P. Kane²  Kim Hirshfield²  Shridar Ganesan²  Robert S. DiPaola² 

[1] University Radiology Group, 579-A Cranbury Road, East Brunswick, NJ 08816, USA; E-Mail:;Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA; E-Mails:;Rutgers Robert Wood Johnson Medical School, 1 Robert Wood Johnson Place-MEB 212, New Brunswick, NJ 08903, USA; E-Mails:;Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08901, USA; E-Mails:

关键词: glioblastoma;    pediatric glioma;    metastatic glioma;    gene mutation;    next generation sequencing;    BRAF V600E;    vemurafenib;    CKDN2A;   

DOI  :  10.3390/jpm4030402

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.