BioProject

Genomic aberrations of neuroblastoma occurring in late childhood and adolescence are uncommon and still underestimated. More...

Genomic aberrations of neuroblastoma occurring in late childhood and adolescence are uncommon and still underestimated. Public DNA copy number profiles of 556 tumors (discovery set) and of 208 tumors obtained by array-CGH assay (validation set) were used to verify if 19p loss is significantly over-represented in children and adolescents. The 19p loss occurrence was separately tested within different age groups in the discovery and validation set and the resulting P values were combined and corrected by Bonferroni’s method. In both sets, the lowest age group significantly associated with 19p loss (discovery set: 20%; validation set: 35%) was 6 years. The 19p loss was considered to be a significant marker for overall survival in patients over 6 years of age. Relevant tumor suppressor genes (KEAP1, DNM2, SMARCA4, SLC44A2 and CDKN2D) and microRNAs (miR-181c, miR-27a, and mirR-199a-1) were in 19p loss. Down-regulation of DNM2, SLC44A2 and CDKN2D associated with poor patient outcome and older age. Among the recurrent NB chromosomal aberrations, only 1q gain was enriched in patients older than 6 years and was mutually exclusive respect to 19p loss. Our data demonstrate that 19p loss is a genomic biomarker of NBs diagnosed in older children that can predict clinical outcome. Overall design: This study includes 208 neuroblastoma tumors obtained by array-CGH assay were used to verify if 19p loss is significantly over-represented in children and adolescents. This subseries includes 17 neuroblastoma tumors analyzed on Agilent-013282. Less...