Table 1.
Causative Genes in Cushing’s disease and its association with aggressiveness.
| Gene | SIG | Frequency | Aggressive |
|---|---|---|---|
| USP8 | Both S>G | 20-60% in CD | No |
| USP48 | S | 13.3% in CD | No |
| MEN1 | Both G>S | 1% in genetic syndrome | No |
| CDKN1B | G | Rare - 2.6% in pituitary adenomas | No |
| PRKAR1A | G | Very Rare | No |
| AIP | Both G>S | 5% of FIPA | Possibly No |
| BRAF | S | Rare | Possibly Yes |
| CABLES1 | Both | 2.2% in CD | Yes |
| DICER1 | G | Very rare | Yes |
| TP53 | S | 12.5% in CD | Yes |
| ATRX | S | 28% in PC | Yes |
| 13% in APT |
S, somatic variants; G, germline variants; CD, Cushing’s disease; PC, pituitary carcinomas; APT, aggressive pituitary tumors.