title: State of the art discovery with tumor profiling in pediatric oncology.
abstract: It is an exciting era in pediatric oncology with the advent of new technologies to comprehensively characterize cancer genomes in childhood tumors. Defining the genetic landscape of pediatric tumors has not only provided critical insight into tumor evolution, but it has also offered promise for more effective treatment in some cases, such as Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL) and anaplastic lymphoma kinase (ALK)-mutated tumors. However, several challenges remain as the field of genomic tumor profiling emerges. This new technology is costly, and the overall impact on survival has yet to be determined. Tumor heterogeneity and clonal evolution have also presented challenges in the development of targeted therapy. In this article, we review breakthroughs in gene sequencing methodology and discuss examples where genomic discoveries have resulted in the recognition of tumor susceptibility as well as incorporation of targeted therapy. We also discuss how broad scale comprehensive tumor analyses have demonstrated the convergence of individual genetic alterations on common relevant pathways. Although the impact of tumor profiling is best studied within the context of rigorously designed clinical trials, there is promise that there will be growing opportunities for the adaption of precision medicine in pediatric oncology in the future.
authors.affiliation: From the Division of Pediatric Hematology/Oncology, Department of Pediatrics, NYU Langone Medical Center, New York, NY; Perlmutter Cancer Center, NYU Langone Medical Center, New York, NY; Department of Pediatrics, University of Utah, Salt Lake City, UT; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
authors.forename: William L
authors.initials: WL
authors.lastname: Carroll
authors.affiliation: From the Division of Pediatric Hematology/Oncology, Department of Pediatrics, NYU Langone Medical Center, New York, NY; Perlmutter Cancer Center, NYU Langone Medical Center, New York, NY; Department of Pediatrics, University of Utah, Salt Lake City, UT; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Raetz
authors.affiliation: From the Division of Pediatric Hematology/Oncology, Department of Pediatrics, NYU Langone Medical Center, New York, NY; Perlmutter Cancer Center, NYU Langone Medical Center, New York, NY; Department of Pediatrics, University of Utah, Salt Lake City, UT; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
authors.forename: Julia
authors.initials: J
authors.lastname: Meyer
mesh_terms: D000367:Age Factors; D002648:Child; D002986:Clinical Trials as Topic; D055808:Drug Discovery; D014644:Genetic Variation; D023281:Genomics / Q000191:economics / Q000379:methods / Q000639:trends; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods / Q000639:trends; D006801:Humans; D058990:Molecular Targeted Therapy; D009369:Neoplasms / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D057285:Precision Medicine / Q000191:economics / Q000379:methods / Q000639:trends; D015398:Signal Transduction