Fig. 3. Mutational landscape of ALT-positive neuroblastomas.

a Somatic alterations in the discovery cohort. Samples ordered based on relative telomere content. Exonic single nucleotide variations (SNVs), exonic small insertions and deletions (INDELs) and structural variations in exonic and intronic regions (SVs) in selected ALT-associated genes, genes associated with telomere biology according to the TelNet database²² [https://malone2.bioquant.uni-heidelberg.de/fmi/webd/TelNet] and TP53 pathway genes are illustrated. Telomere maintenance features, clinical features, chromosomal aberrations, and ALK/RAS pathway mutations (HRAS, NRAS, KRAS, BRAF, NF1 or ALK) are given in the top panel. b Exact genetic location of mutations affecting the ATRX gene. Bars represent structural variations (deletion, duplication) and small deletions, while SNVs are illustrated as lollipops and colored by the SNV type. c Event-free and overall survival rate of patients with an ATRX-mutated ALT-positive neuroblastoma (n = 33) compared to patients with an ATRX wild-type ALT-positive neuroblastoma (n = 27). P values were calculated using a log rank test. n describes the number of analyzed tumors.