Table 1.
Molecular alterations and their potential implications on therapeutic targeting
| Functional pathways | Genes involved (references) | Potential targeting* |
|---|---|---|
| Tumour suppression | PRDM1, FOXO3, HACE1 (7), CAV1, CAV2, DLC1 (15) | Specific gene targeting |
| Oncogenesis | NOTCH3, KRAS, BRAF, PRKD1, MAP3K5, PTPRK (16, 20, 21); DDX3X (16, 21) | Specific gene targeting |
| Multi-function pathway activation | PRKCQ, TNFRSF21, CUL1, FSD1, SGK1 (15, 16) | NF-κB, WNT signalling |
| AKT3, IL6R, CCL2 (15, 16); JAK3, STAT3, STAT5B (16, 20, 21) | JAK/STAT signalling | |
| Derangement of tissue proliferation | CCND3 (15); S100A16, LAMB1, LAMC1, COL1A2, CTSB (15, 16) | Cell cycle |
| MET, S100A13 (15) | Angiogenesis | |
| Epigenetic dysregulation | TP73, RARB, P15, P16, PRDM1, ATG5, AIM1, BCL2L11, DAPK1, TET2, PTPN6, SOCS6, PTPRK, ASNS (25, 26); KMT2D, KMT2C, BCOR, EP300, HDAC9, ARID1A, ASXL3 (16, 20,21); EZH2 (17) | Epigenetic modifiers |
| Immune escape | PD-L1, PD-L2 (15, 16) | Immune checkpoints |
*Potential strategies that may or may not yet be supported by experimental or clinical data