A mechanistic classification of clinical phenotypes in neuroblastoma

Study ID Alternative Stable ID Type
EGAS00001003244 Other

Study Description

Clinical courses of the pediatric tumor neuroblastoma range from fatal progression to spontaneous regression. To gain insights into the pathogenesis of these divergent subtypes, we performed massively parallel sequencing of 416 pretreatment neuroblastomas and assessed telomere maintenance mechanisms in 208/416 cases. We observed that telomere maintenance and mutations in RAS or p53 pathway genes strongly affected disease courses. Fatal outcome occurred only in the presence of telomere maintenance, whereas patients whose tumors lacked such mechanisms had excellent outcome. In patients with telomere maintenance-positive tumors, survival was dramatically inferior when additional RAS/p53 pathway mutations were present. By contrast, spontaneous regression occurred both in the presence and absence of RAS/p53 pathway mutations in patients with telomere maintenance-negative tumors. Together, our data provide a precise mechanistic classification of clinical neuroblastoma phenotypes based on telomere maintenance mechanisms and genetic alterations of the tumor.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
16S sequencing data (dual-index) from 1054 Flemish Gut Flora Project (FGFP) samples
Illumina HiSeq 2500,unspecified 1054
Mapped BAM files of 162 tumor/normal WES experiments.
unspecified 324

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