JCO Precis Oncol 2018 19;2. Epub 2018 Apr 19.
University of California Santa Cruz Genomics Institute, Mailstop CBSE, 1156 High St, Santa Cruz, CA 95064.
Clinical detection of sequence and structural variants in known cancer genes points to viable treatment options for a minority of children with cancer. To increase the number of children who benefit from genomic profiling, gene expression information must be considered alongside mutations. Although high expression has been used to nominate drug targets for pediatric cancers, its utility has not been evaluated in a systematic way. We describe a child with a rare sarcoma that was profiled with whole-genome and RNA sequencing (RNA-Seq) techniques. Although the tumor did not harbor DNA mutations targetable by available therapies, incorporation of gene expression information derived from RNA-Seq analysis led to a therapy that produced a significant clinical response. We use this case to describe a framework for inclusion of gene expression into the clinical genomic evaluation of pediatric tumors.