Table 1. Previously reported non-synonymous mutations in synovial sarcoma.
| Gene | Examined part | Frequency | Sample size | Somatic | Reference |
|---|---|---|---|---|---|
| TP53 | Exon 2-11 | 0 | 5 | N/A | [47] |
| Exon 5-9 | 6 (12%) | 49 | Not validated | [48] | |
| Unknown | 1 | 1 | Yes | [49]* | |
| Exon 5-8 | 2 (6%) | 34 | Not validated | [50] | |
| TERT | C250T + C228T | 1 | 25 + 5CL | Not validated | [51] |
| EGFR | Exon 18-21 | 1 (8%) | 12 | Not validated | [52] |
| Exon 18-21 | 1 (50%) | 2 | Yes | [53] | |
| CDH1 | Exon 4-9 | 12 (24%) | 49 | Yes | [54] |
| Exon 4-9 | 5 (12.5%) | 40 | Not validated | [55] | |
| Unknown | 1 (6%) | 16 | Not validated | [56] | |
| CTNNB1 | Exon 3 | 4 (8%) | 49 | Not validated | [57] |
| Exon 3 | 0 | 15 | N/A | [58] | |
| Unknown | 2 (12.5%) | 16 | Not validated | [56] | |
| Exon 3 | 1 (20%) | 5CL | Not validated | [37] | |
| APC | Exon 15 | 4 (8%) | 49 | Yes | [59] |
| Unknown | 0 | 16 | N/A | [56] | |
| Coding region | 0 | 5CL | N/A | [37] | |
| HRAS | Codon 12 and 13 | 3 (6%) | 49 | Not validated | [48] |
| PTEN | Exon 5-9 | 2 (7%) | 30 | Not validated | [24] |
| Unknown | 7 (14%) | 49 | Unknown | [60]* | |
| PI3KCA | Exon 9 and 20 | 2 (7%) | 30 | Not validated | [24] |
| Exon 1, 9, 20 | 0 | 23 | N/A | [61] | |
| Exon 9, 20 | 0 | 8 | N/A | [25] | |
| PDGFRA | Exon 12 & 18 | 1 (8%) | 12 | Not validated | [27]* |
| Exon 12-16 & 18-21 | 0 | 25 + 2CL | N/A | [38] | |
| Exome | mutation in SETD2, TP53, TRRAP, BCL9 and other mutations in non cancer related genes | 1 (14%) | 7 | Yes | [28] |
*
abstract only; CL=cell lines