A child getting diagnosed with cancer is devastating and can often be compounded by not knowing how to help, or what to do next. Many pediatric cancers are still not well understood, and it remains the leading cause of death by disease among children in the United States.1
Fortunately, advances in research have helped evolve our understanding of cancer from being viewed as a disease of a specific organ to a disease of the genome. By acquiring more complete knowledge of the genomic alterations specifically associated with pediatric cancers, we may be able to develop more effective targeted therapies, and identify specific ways to overcome treatment resistance, ultimately contributing to advancements in patient care.
However, compared to cancers that commonly afflict adults, pediatric cancers are rare. As a result, one of the biggest challenges to understanding pediatric cancers is the scarcity of genomic information. Moreover, pediatric cancers typically have low rates of mutations and few recurrently mutated genes, making it difficult to draw useful conclusions.
Overcoming these challenges will take the collective effort of the global oncology community and an ongoing commitment to share data and collaborate to advance research and the development of precision medicine. Last year, Foundation Medicine made publicly available the comprehensive genomic profiles of more than 1,200 pediatric tumors from our database to help stimulate research collaboration and help fuel the development of precision therapies to fight childhood cancers. Since its launch, this data set has received hundreds of inquiries from researchers around the world.
As part of our ongoing commitment to advance precision medicine research in pediatrics, we recently published two collaborative studies that identified new, and further characterized existing, genomic alterations in different pediatric cancers. These findings may one day help inform treatment decisions for physicians.
In one study, our team helped identify novel gene fusions in a set of 1,215 pediatric tumors of various cancer types.2 Comprehensive genomic profiling with the FoundationOne® assay identified these fusions in a variety of disease types, challenging the prevailing idea of “disease-specific” alterations. Data from this study represent one of the largest sets of genomically characterized pediatric cancers published to date.
In another study, FoundationOne® revealed diverse genomic alterations, including BRAF V600E mutations, RET mutations and oncogenic kinase fusions, in 93 percent of tumors from pediatric, adolescent and young adult thyroid carcinoma patients, suggesting that comprehensive genomic profiling could potentially provide benefit by identifying varied oncogenic drivers and thereby help guide targeted therapy approaches.
These findings provide additional evidence for the potential role comprehensive genomic profiling may have in helping identify novel genomic variants or predictors of disease. Together they help shed light on the genomic basis of pediatric cancers, advancing our understanding of how we might improve patient care for children. We believe that collaborative approaches to advance research will continue to catalyze new discoveries which we hope will ultimately improve the treatment and prognosis for children with cancer.
1 National Cancer Institute. Cancer in Children and Adolescents. https://www.cancer.gov/types/childhood-cancers/child-adolescent-cancers-fact-sheet. Last accessed 24 Jan 2017.
2 Chmielecki et al. Genomic profiling of a large set of diverse pediatric cancers identifies known and novel mutations across tumor spectra. Cancer Research. 2017. doi: 10.1158/0008-5472.CAN-16-1106