Fig. 3

Associations between mitochondrial and nuclear genome mutations. a Correlations of mitochondrial features with nuclear genome features. The size and color of the dot represents the Spearman correlation and the background shading represents the P-value. Nuclear features: SNVs, CTXs, INVs, kataegis data available for 172 patients; Chromothripsis: n = 159; CNAs: MYC, NKX3-1 (n = 203); CDH1, CDKN1B, CHD1, PTEN, RB1, TP53 (n = 194); Methylation: n = 104. Mitochondrial features: 216 patients. b Mutations in OHR are associated with CNAs in MYC. Heatmap showing those patients with CNA gains (red) in MYC and those with mtSNVs in OHR, CSB1, the control region and ATP6, mtSNV color represents the ∆HF. Since CSB1 is a subregion within OHR, mutations in CSB1 are also considered as OHR mtSNVs, similarly, mtSNVs in OHR are also within the control region (n = 203). The bar plot on the right shows the fraction of patients with or without a MYC CNA that have a specific mtSNV. c Kaplan–Meier plot of 165 patients with OHR and MYC mutations. Patients were grouped according to whether they had neither MYC CNAs nor OHR SNVs (black line), a MYC CNA or an OHR mtSNV (blue) or had both (red line). The group that had a CNA gain in MYC and an mtSNV in the OHR region had significantly worse outcomes than those without the mutations. Biochemical RFR Biochemical relapse-free rate