Table 3.
Molecular differences between BHD-associated renal tumours and sporadic ChRCCs.
| BHD-associated renal tumours | Sporadic ChRCCs | |
|---|---|---|
| Expressions | ||
| Upregulated pathways (GSEA) | Oxydative phosphorylation, Glutathione metabolism | Cancer-related pathways, Cell cycle, DNA replication |
| Heterogeneity | Intra-tumour heterogeneity conffered by mutually exclusive expressions of L1CAM and FOXI1 | Inter-tumour heterogeneity conffered by mutually exclusive expressions of L1CAM and FOXI1 |
| Nuclear DNA | ||
| Driver gene mutation | FLCN | TP53, PTEN |
| Copy number alteration (CNA) | Low | Copy loss of chr 1, 2, 6, 10, 13 and 17 |
| Tumour mutation burden (TMB) | Low | High |
| Mutational signature | SBS1, SBS5, SBS40 | SBS1, SBS5, SBS40 |
| Cell of origin (most frequent) | Proximal tubule cell | Intercalated cell of collecting duct |
| Timing of second hit alteration | Early twenties | – |
| Mitochondrial DNA | ||
| Variant allele frequency (VAF) | Low | High |
| Copy number | High | Low |