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

Journal of Personalized Medicine

Kim Hirshfield¹  John Glod¹  Robert S. DiPaola¹  Lorna Rodriguez-Rodriguez¹  Shridar Ganesan¹  Atif Khan¹  Archana Sharma¹  Michael P. Kane¹  Roy H. Rhodes²  David J. Weissmann²  Mihae Song³  Rachana Tyagi³  Sudipta Roychowdhury⁴ 

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

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

DOI  :  10.3390/jpm4030402

来源: DOAJ

【 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】

Unknown