Table 1.
Overview on diseases caused by SMARCB1 germline variants
| Atypical teratoid/rhabdoid tumor (AT/RT) | Rhabdoid tumor of the kidney (RTK) | Malignant rhabdoid tumor (MRT) | Multifocal rhabdoid tumor | Schwannoma | Meningioma | SCCOHT | Other tumors | Coffin–Siris syndrome | Nicolaides–Baraitser syndrome | Unaffected carriers | Total | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Number of cases | 115 | 13 | 25 | 39 | 89 | 37 | 26 | 12 | 119 | 64 | 38 | 577 | |
| Affected gene | SMARCB1 | 109 | 12 | 24 | 39 | 89 | 23 | 0 | 12 | 14 | 0 | 17 | 339 |
| SMARCA4 | 6 | 1 | 1 | 0 | 0 | 0 | 26 | 0 | 12 | 0 | 14 | 60 | |
| SMARCA2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 | 64 | 0 | 68 | |
| SMARCE1 | 0 | 0 | 0 | 0 | 0 | 14 | 0 | 0 | 6 | 0 | 7 | 27 | |
| ARlD1A | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 0 | 0 | 8 | |
| ARlD1B | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 69 | 0 | 0 | 69 | |
| ARlD2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 0 | 6 | |
One patient may represent several cases if he developed more than one disease. Other tumors encompass cribriform neuroepithelial tumor (CRINET, n = 3), malignant peripheral nerve sheath tumor (MPNST, n = 2), conventional chondrosarcoma (n = 1), epitheloid sarcoma (n = 1), myeloid sarcoma (n = 1), leiomyosarcoma (n = 1), papillary renal cell carcinoma (pRCC1, n = 1), leiomyoma (n = 1), and myoepithelioma (n = 1).