A mechanistic classification of clinical phenotypes in neuroblastoma (telomere maintenance cohort)

Our study proposes a precise mechanistic classification of clinical neuroblastoma phenotypes that is based on telomere maintenance mechanisms and RAS or p53 pathway mutations. A crucial factor in telomere maintenance is overexpression of TERT. We therefore determined a TERT expression threshold to identify MYCN-WT TERT-WT tumors whose TERT mRNA levels are comparable to those of tumors bearing MYCN or TERT alterations. Single-color gene expression profiles from 208 neuroblastoma tumors were generated using 44K oligonucleotide microarrays. Stages were classified according to the International Neuroblastoma Staging System.