Genomic profiling of pediatric malignancies in Schneider medical center

Genomic profiling of pediatric malignancies is crucial for improvement of diagnosis
and identifying potential prognostic markers and therapeutic targets. Pediatric
malignancies are rare and different from adult cancers. Thus, existing tools for
genomic profiling, developed for adult cancers, are not suitable for childhood cancer
diagnostics. We investigated molecular alterations, using a next-generation
sequencing (NGS) panel specific for pediatric neoplasms. We describe the
performance of this panel by using a cohort of clinical pediatric samples from
Schneider medical center that included a wide range of tumor types and alterations.
Our goal was to study the diagnostic yield of the test compare to conventional
methods, to detect key genetic drivers, clinically significant molecular abnormalities
and therapeutic targets. The results from this study support the use of Childhood
Cancer panel for routine clinical testing of a wide variety of pediatric malignancies
and demonstrate the significant yield of this test.