Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

ABSTRACT:

Background

Molecular characterization has the potential to advance the management of pediatric cancer and high-risk hematologic disease. The clinical integration of genome sequencing into standard clinical practice has been limited and the potential utility of genome sequencing to identify clinically impactful information beyond targetable alterations has been underestimated.

Methods

The Precision in Pediatric Sequencing (PIPseq) Program at Columbia University Medical Center instituted prospective clinical next generation sequencing (NGS) for pediatric cancer and hematologic disorders at risk for treatment failure. We performed cancer whole exome sequencing (WES) of patient-matched tumor-normal samples and RNA sequencing (RNA-seq) of tumor to identify sequence variants, fusi

SUBMITTER: Oberg JA 

PROVIDER: S-EPMC5180407 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature