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Childhood Cancer Genomics Gaps and Opportunities: Identification of Research Priorities Workshop Summary

NCI convened a workshop February 4-5, 2015, of representative research teams that have been leaders in defining the genomic landscape of childhood cancers to discuss the influence of genomic discoveries on the future of childhood cancer research. Workshop participants also included clinical researchers, members of regulatory agencies, and members of the childhood cancer research advocacy community. The participants are listed at the end of this document. The workshop focused on the identification of gaps in current understanding and opportunities for future research.

Workshop participants identified the following research gaps and opportunities as areas that warrant future research focus:

  • Continued discovery research to more comprehensively characterize the genomic and epigenomic alterations that are present in childhood cancers and their clinically relevant subsets
  • Clinical research protocols focused on identifying the genomic landscape of childhood cancers at relapse and on evaluating therapeutic strategies for genomically-defined patient subsets at relapse
  • A childhood cancer Genomic Data Commons to facilitate collaboration across research teams and to facilitate the identification and clinical relevance of low-frequency genomic alterations
  • Preclinical models that faithfully replicate the relevant genomic alterations of childhood cancers
  • Identification of treatments to directly or indirectly target pediatric cancer driver genomic alterations for which there are currently no available targeted agents, including the fusion genes that characterize selected pediatric sarcomas (e.g., Ewing sarcoma, synovial sarcoma, and alveolar rhabdomyosarcoma) and childhood leukemias (e.g., the MLL gene-fusion leukemias), the mutated histones found in pediatric high-grade gliomas, and the SMARCB1 alterations found in rhabdoid tumors
  • Further definition of germline dominant and recessive lesions that predispose to cancer and the maintenance of this information within accessible databases, and the enhancement of the genetic counseling capabilities of institutions that treat children with cancer

The workshop summary provides details of the key issues addressed at the workshop and focuses on the future research opportunities highlighted by workshop participants. The summary is provided to inform the childhood cancer community about important areas that warrant further research investment. NCI will be supporting research in many of these areas through President Obama’s Precision Medicine Initiative and through other research activities.

Read the full workshop summary.

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