Table 1.
Genetic changes in human pituitary adenomas and modified mice models with pituitary adenomas
| Locus | Germline mutations |
Somatic mutations |
Syndrome | |||||
|---|---|---|---|---|---|---|---|---|
| Human |
Mice |
Human (pituitary tumors) | Mice (pituitary conditional) | |||||
| Mutations | LOH | Mutations | LOH | |||||
| MEN1 | 11q13 | + | + | + (hetero) | + | + | − | MEN1 |
| PRKAR1A | 17q24.2 | + | ± | − | NA | − | + (GHRH-R) | CNC |
| AIP | 11q13.3 | + | + | + (hetero) | + | − | − | FIPA |
| CDKN1B (p27 kip1 ) | 12p13 | + | ± | + (homo) | NA | Downregulated | + (POMC) | MEN4 |
| SDHs | * | + | + | − | NA | + | − | PGLs |
| GNAS | 20q13.3 | − | NA | − | NA | + | − | MAS |
| Rb | 13q14.2 | − | NA | + (hetero) | + | Downregulated | + (POMC) | |
| CDKN2C (P18 ink4c ) | 1p32 | − | NA | + (homo) | NA | − | − | |
| PTTG1 | 5q35.1 | − | NA | − | NA | Upregulated | + (αGSU) | |
| HMGA1 | 6p21 | − | NA | + | NA | − | − | |
| HMGA2 | 12q15 | − | NA | + | NA | Upregulated | − | |
| Cyclin E | 19q12 | − | NA | − | NA | Upregulated | + (POMC) | |
| TGFα | 2p13 | − | NA | − | NA | − | + (PRL) | |
| FGFR4 | 5q35.2 | − | NA | − | NA | Truncated variant | + (PRL) | |
| D2R | 11q23 | − | NA | + (homo) | NA | − | − | |
| PRLR | 5p13.2 | − | NA | + (homo) | NA | − | − | |
*: SDHA 5p15, SDHB 1p36.1p35, SDHC 1q23.3, SDHD 11q23, CDKN1B: cyclin-dependent kinase inhibitor 1B, CDKN2C: cyclin-dependent kinase inhibitor 2C, CNC: Carney complex, D2R: dopamine receptor type 2, FGFR: fibroblast growth factor receptor, FIPA: familial isolated pituitary adenoma, GHRH-R: growth hormone releasing hormone receptor, GNAS: GNAS complex locus, αGSU: glycoprotein hormone, alpha subunit, hetero: heterozygosity, HMGA: high mobility group A, homo: homozygosity, LOH: loss of heterozygosity, MAS: McCune-Albright syndrome, MEN1: multiple endocrine neoplasia type 1, NA: not applicable, PGL: paraganglioma, PGLs: SDH-related PGL syndrome, POMC: pro-opiomelanocortin, PRLR: prolactin receptor, PRKAR1A: protein kinase, cAMP-dependent, regulatory, type 1, alpha, PTTG1: pituitary tumor transforming 1, Rb: retinoblastoma, SDH: succinate dehydrogenase complex, TGFα: transforming growth factor alfa.