Down syndrome pediatric BCP-ALL analysis for mutations in JAK2 kinase and in RAS pathway by a custom panel

Pediatric patients with Down Syndrome, affected by B-cell precursor ALL and enrolled in the AIEOP-BFM treatment protocol in Italian centers were analysed at diagnosis and at remission for mutations in JAK2 kinase and in RAS pathway. The experiment was performed designing a custom panel of 40 genes involved in leukaemia (IDT probe), by the Illumina Nextera Flex for Enrichment protocol on NexSeq550 (2x150).