Open AccessComparative RNA-Sequencing Analysis Benefits a Pediatric Patient With Relapsed Cancer
Author(s) -
Yulia Newton,
Shahrad R. Rassekh,
Rebecca Deyell,
Yaoqing Shen,
Steve Jones,
Christopher Dunham,
Stephen Yip,
Sreeja Leelakumari,
Jingchun Zhu,
Duncan C. McColl,
Teresa Swatloski,
Sofie R. Salama,
Tony Ng,
Glenda Hendson,
Anna F. Lee,
Yussanne Ma,
Richard A. Moore,
Andrew J. Mungall,
David Haussler,
Joshua M. Stuart,
Colleen Jantzen,
Janessa Laskin,
Marco A. Marra,
Olena Morozova
Publication year - 2018
Publication title -
jco precision oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.405
H-Index - 22
ISSN - 2473-4284
DOI - 10.1200/po.17.00198
Subject(s) - pediatric cancer , gene , rna , dna sequencing , computational biology , biology , cancer , genome , cancer genome sequencing , genetics , medicine , genomics , bioinformatics
Clinical detection of sequence and structural variants in known cancer genes points to viable treatment options for a minority of children with cancer. 1 To increase the number of children who benefit from genomic profiling, gene expression information must be considered alongside mutations. 2,3 Although high expression has been used to nominate drug targets for pediatric cancers, 4,5 its utility has not been evaluated in a systematic way. 6 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.