Fig. 1: Multi-omics-based molecular subtypes of retinoblastoma and clinical characteristics. | Nature Communications

Fig. 1: Multi-omics-based molecular subtypes of retinoblastoma and clinical characteristics.

From: A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Fig. 1

a Consensus clustering of retinoblastomas based on transcriptomic, DNA methylation, and copy-number alteration data (top panel). Unsupervised cluster-of-clusters analysis (middle panel). Supervised centroid-based classification (bottom panel). Final omics subtype: subtype 1, n = 31 (gold); subtype 2, n = 38 (blue); unclassified, n = 3 (gray). b Heatmap showing methylation values (methylome arrays) for the nine-CpG-based classifier (left panel). Correlation between methylation values assessed by pyrosequencing and by methylome array, for 17 tumors (middle panel). A two-sided Pearson’s correlation test was used. The nine-CpG-based classifier applied to a subset of 17 tumors of the initial series, led to the same classification as obtained by the -omics approach in 16 cases (one case being not classified by the nine-CpG-based classifier). Subtype assignment of 30 additional tumors based on the nine-CpG-based classifier (right panel). c Final molecular classification of 96 retinoblastomas and their key clinical and pathological characteristics. p ≥ 0.05 (ns), p < 0.05 (*), p < 0.01 (**), p < 0.001 (***), p < 0.0001 (****). For comparisons of RB1 germline mutation, laterity, growth pattern, tumor diameter, and necrosis between two subtypes, Chi2 tests were used. For comparisons of age at diagnosis and tumor diameter between two subtypes, two-sided Kruskal–Wallis rank tests were used. For comparisons of optic nerve invasion and choroid and sclera invasion between two subtypes, two-sided Fisher’s exact tests were used. Exact p-values are provided in Table 1.

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