The genetic landscape of high-risk neuroblastoma

January 20, 2013

Neuroblastoma is a type of cancer that arises in the developing sympathetic nervous system and is diagnosed primarily in infants and children. The study reported a low median frequency of exonic somatic mutations (0.60 mutations per megabase) and few genes overall that are recurrently mutated across the coding regions of these pediatric tumors. The frequently mutated genes detected include ALK, PTPN11, ATRX, MYCN, and NRAS with potentially pathogenic germline variants significantly enriched in ALK, CHEK2, PINK1 and BARD1. These results suggest that developing better treatment strategies for neuroblastoma patients will be challenging with a minimal number of targetable oncogenic drivers.

Last updated: October 30, 2018