Table 3.
The genetic abnormalities found in skull base tumors.
| Tumors | Involved genes | Known cytogenetic features | OMIM evidence of inheritance |
|---|---|---|---|
| Adenoid cystic carcinoma | MYB, BCL2, ACCS, SNAI2, KIT | Not yet established | Not yet established |
| Cholesteatoma | DEFB4A, KRT13 | Not yet established | 604183 |
| Chondroma | SDHD, SERPINA3 | Multiple changes | Multiple syndromes |
| Chondrosarcoma | EXT1 | 8q24.11 | 215300 |
| Chordoma | CHDM | 7q33 | 215400 |
| Chorioid plexus papilloma | TP53 | 17p13.1 | 260500 |
| Craniopharyngioma | CTNNB1, BRAF, MMP9 | Multiple changes | Multiple syndromes |
| Esthesioneuroblastoma | EPOR | −3p, +17q | 133450 |
| Gliomas | IDH1, TP53, ERBB2 | 2q34, 17p13.1, 17q12 | 137800 |
| Hemangioma | KDR | 2p13.3, 4q12, 5q35.3 | 602089 |
| Lipoma | LPP, LHFPL5 | Multiple changes also found in liposarcomas | 151900 |
| Lymphomas (MALT-type, from mucosa of the nose, sinuses) | MALT1 | 18q21.32 | 604860 |
| Melanoma malignum | BRAF, KIT | 1p36 | 155600 |
| Meningioma Skull base meningioma |
ATP1A2, SST | 10q23.31, 17q21.2, 22q12-13 | 607174 |
| Metastases (breast, lung, kidney, gastrointestinal tract) | Multiple molecular elements involved in progression of specific tumors | ||
| Nasopharyngeal carcinomas | TP53, ZMYND10 | 4p15.1-q12, 6p21.3 | 607107, 161550 |
| Neurilemmoma | MYH8, VIM | 22q11.23, 22q12.2 | 162091 |
| Neuroma | NF2 | 22q12.2 | 101000 |
| Paraganglioma | SDHD, SDHAF2, SDHB, SDHC, SDHA | 11q23.1, 1p36, 1q21, 11q13, 5p15 | 168000, 115310, 605373, 601650, 614165 |
| Plasmocytoma | IRF4, CCND1 | 22q11.23 | 605017 |
| Rhabdomyosarcoma | TTN, FHL2, PAX3 | 11p15.4, 1p36.13, 2q36.1, 13q14.11 | 268210, 268220 |
| Salivary glands tumors | DENR, XIAP | 8q12.1, | 181030 |
| Squamous cell carcinoma | TNFRSF10B, ING1 | 8p21.3, 10q23.31, 13q34 | 275355 |
| Teratoma | AFP, CGA, CGB | Multiple changes | 273120 (pineal teratoma) |
| Tumors of the hypophysis (prolactinoma) | AIP | 11q13.2 | 600634, 102200 |