title: 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.
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. john.glod@nih.gov.
authors.forename: John
authors.initials: J
authors.lastname: Glod
authors.affiliation: Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08901, USA. songm2@rwjms.rutgers.edu.
authors.forename: Mihae
authors.initials: M
authors.lastname: Song
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. sharmaar@cinj.rutgers.edu.
authors.forename: Archana
authors.initials: A
authors.lastname: Sharma
authors.affiliation: Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08901, USA. tyagira@rwjms.rutgers.edu.
authors.forename: Rachana
authors.initials: R
authors.lastname: Tyagi
authors.affiliation: Rutgers Robert Wood Johnson Medical School, 1 Robert Wood Johnson Place-MEB 212, New Brunswick, NJ 08903, USA. rhodesrh@rwjms.rutgers.edu.
authors.forename: Roy H
authors.initials: RH
authors.lastname: Rhodes
authors.affiliation: Rutgers Robert Wood Johnson Medical School, 1 Robert Wood Johnson Place-MEB 212, New Brunswick, NJ 08903, USA. weissmdj@rwjms.rutgers.edu.
authors.forename: David J
authors.initials: DJ
authors.lastname: Weissmann
authors.affiliation: University Radiology Group, 579-A Cranbury Road, East Brunswick, NJ 08816, USA. sr10@comcast.net.
authors.forename: Sudipta
authors.initials: S
authors.lastname: Roychowdhury
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. khanat@cinj.rutgers.edu.
authors.forename: Atif
authors.initials: A
authors.lastname: Khan
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. kanemp@cinj.rutgers.edu.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Kane
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. hirshfie@cinj.rutgers.edu.
authors.forename: Kim
authors.initials: K
authors.lastname: Hirshfield
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. ganesash@cinj.rutgers.edu.
authors.forename: Shridar
authors.initials: S
authors.lastname: Ganesan
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. dipaolrs@cinj.rutgers.edu.
authors.forename: Robert S
authors.initials: RS
authors.lastname: DiPaola
authors.affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. rodriglo@cinj.rutgers.edu.
authors.forename: Lorna
authors.initials: L
authors.lastname: Rodriguez-Rodriguez