A group of researchers from the Dana-Farber Cancer Institute (MA, USA) have conducted the largest clinical study to date of genetic abnormalities in pediatric brain tumors.
The study published recently in Neuro-Oncology highlighted that testing for genetic irregularities is clinically feasible and that the results could help guide patients’ treatment.
Co-senior author Susan Chi (Dana-Farber Cancer Institute) commented: “The importance of genomic profiling in the diagnosis and treatment of pediatric brain cancers is reflected in the World Health Organization’s recent decision to classify such tumors by the genetic alterations within them, rather than by broad tumor type.”
The study analyzed the cancer genomes of 203 paediatric brain tumors, representing all major subtypes of the disease, 117 of these samples were analyzed with OncPanel (an exome-sequencing platform that includes 300 cancer-causing genes); 146 by OncoCopy (an array comparative genomic hybridization assay) and 60 tumors were subjected to both methodologies.
OncoPanel uncovered clinically relevant alterations in 56% of patients whilst the combined utilization of OncoPanel and OncoCopy identified subgroup-specific alterations in 89% of medulloblastomas. The teams findings demonstrate that targeted exome-based sequencing in combination with genome-wide copy number profiling can identify genetic alterations that could help guide the diagnosis and treatment of pediatric tumors.
Chi concluded: “Targeted therapies are likely to be most effective when they’re matched to specific abnormalities within tumor cells. Our findings show that precision medicine for pediatric brain tumors can now be a reality.”
Overall, the team believe that the combined utilization of OncoPanel and OncoCopy represents an effective precision medicine approach for the clinical evaluation of pediatric brain tumors.
Sources Ramkissoon SH, Bandopadhayay P, Hwang J et al Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors Neuro-Oncology doi: 10.1093/neuonc/now294 (2017); Dana-Farber Cancer Institute press release www.dana-farber.org/Newsroom/News-Releases/precision-cancer-medicine-advances-pediatric-brain-tumor-diagnosis-and-treatment.aspx