A mechanistic classification of clinical phenotypes in neuroblastoma (TERT expression threshold cohort). A mechanistic classification of clinical phenotypes in neuroblastoma (TERT expression threshold 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 MYCNWT TERTWT tumors whose TERT mRNA levels are comparable to those of tumors bearing MYCN or TERT alterations. Overall design: Single-color gene expression profiles from 186 neuroblastoma tumors were generated using 44K oligonucleotide microarrays. Stages were classified according to the International Neuroblastoma Staging System.