Table 1.
PPGL Clusters and Driver Genes
| Molecular Clusters | Proportion Hereditary | Official Symbol | Official Full Name | Type | Germline/Somatic |
|---|---|---|---|---|---|
| Pseudohypoxia TCA cycle–related (10%–15% of PPGLs) | ∼100% | SDHA | Succinate dehydrogenase complex flavoprotein subunit A | TS | Germline |
| SDHB | Succinate dehydrogenase complex iron sulfur subunit B | TS | Germline | ||
| SDHC | Succinate dehydrogenase complex subunit C | TS | Germline (genetic/epigenomic) | ||
| SDHD | Succinate dehydrogenase complex subunit D | TS | Germline | ||
| SDHAF2 | Succinate dehydrogenase complex assembly factor 2 | TS | Germline | ||
| FH | Fumarate hydratase | TS | Germline | ||
| Pseudohypoxia, VHL/EPAS1-related (15%–20% of PPGLs) | 25% | VHL | Von Hippel–Lindau tumor suppressor | TS | Germline/somatic |
| EPAS1 | Endothelial PAS domain protein 1 | OG | Postzygotic/somatic | ||
| Wnt signaling (5%–10% of PPGLs)a | 0% | CSDE1 | Cold shock domain containing E1 | TS | Somatic |
| MAML3 | Mastermind like transcriptional coactivator 3 | OG, fusion | Somatic | ||
| Kinase signaling (50%–60% of PPGLs) | 20% | RET | Ret proto-oncogene | OG | Germline/somatic |
| NF1 | Neurofibromin 1 | TS | Germline/somatic | ||
| MAX | MYC-associated factor X | TS | Germline/somatic | ||
| TMEM127 | Transmembrane protein 127 | TS | Germline | ||
| HRAS | HRas proto-oncogene, GTPase | OG | Somatic |
Abbreviations: OG, oncogene; TS, tumor suppressor.
a
Reported only in (3).