Comparative RNA-Sequencing Analysis Benefits a Pediatric Patient With Relapsed Cancer.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31372595.
- Also identified by DOI 10.1200/PO.17.00198 and PMC identifier 6675034.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Clinical detection of sequence and structural variants in known cancer genes points to viable treatment options for a minority of children with cancer.<sup>1</sup> To increase the number of children who benefit from genomic profiling, gene expression information must be considered alongside mutations.<sup>2,3</sup> Although high expression has been used to nominate drug targets for pediatric cancers,<sup>4,5</sup> its utility has not been evaluated in a systematic way.<sup>6</sup> 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.