Fig. 5: Intratumor heterogeneity at the single-cell level of a subtype 2 retinoblastoma (RBSC11). | Nature Communications

Fig. 5: Intratumor heterogeneity at the single-cell level of a subtype 2 retinoblastoma (RBSC11).

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

Fig. 5

a 2D t-SNE plot of 1198 single retinoblastoma cells from one patient. Each dot represents one cell. b Heatmap of top cluster markers (top 20 most upregulated genes per cluster according to fold-change). Representative cluster markers and enriched gene sets are shown. Cluster marker p-values were calculated by hypergeometric tests with BH correction. c Expression of selected genes shown in 2D t-SNE plot (early photoreceptor markers: CRX, OTX2; late cone markers: ARR3, GUCA1C; neuronal/ganglion markers: EBF3, GAP43, DCX; proliferation marker: MKI67; pro-apoptotic marker: BNIP3; macrophage marker: CD14; T-cell marker: CD3D). d CNV profiles inferred from single-cell gene expression. Each row represents the profile of one individual cell. The genes on chromosome 6p overexpressed in the non-malignant cells monocyte/microglia correspond to HLA complex genes and should not be interpreted as CNV in cluster 5. e Upper panel: Diagram summarizing the interpretation of the different clusters of the 2D t-SNE plot. Lower panel: A progression model for this retinoblastoma case based on genomic alterations.

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