Table 2. Primer pairs and results of the NGS (n/a= not applicable= low DNA quality).
| Gene | Exon | Codon | Mutation status | Freq. (%) | Interpretation |
|---|---|---|---|---|---|
| BRAF | 11, 15 | 439-477, 582-620 | Wild type | ||
| CDK4 | 2 | 1-57 | Wild type | ||
| CDKN2A | 1, 2 | 38-50, 136-152 |
Case 6 (PDS): EX1: c148C>T p.Q50* AND EX2: c.442G>A p.A148T |
56.32 22.24 | Truncated protein Described, function unknown [52] |
| GNA11 | 5 | 203-245 | Wild type | ||
| GNAQ | 5 | 203-245 | Wild type | ||
| HRAS | 2, 3, 4 | 1-37, 38-97, 98-146 |
Case 6 (PDS): EX2: c.37G>C p.G13R |
19.34 | Activating |
| IDH1 | 4 | 89-138 |
Case 7 (PDS): EX4: c379C>T p.P127S |
18.02 | Described, function unknown [53] |
| KIT | 9, 11, 13, 17, 18 | 450-513, 550-591, 624-659, 784-824, 825-861 | Wild type | ||
| KNSTRN | 1 | 1-38 |
Case 6 (PDS): EX1: c.71C>T p.S24F |
29.04 | Described [8] |
| KRAS | 2-4 | 1-37, 41-92, 98-150 | Wild type | ||
| NRAS | 2-4 | 1-37, 41-92, 98-150 | Wild type | ||
| OXA1L | 1 | 1-77 | Wild type | ||
| PDGFRA | 12, 14, 18 | 552-595, 632-667, 814-854 | Wild type | ||
| PIK3CA | 9, 20 | 514-555, 980-1069 |
Case 5 (AFX recurring as PDS, both tumors): EX9: c.1624G>A p.E542K |
35.99/48.07 | Activating |
|
Case 6 (PDS): EX9: c.1633G>A p.E545K |
36.43 | Activating | |||
| PTEN | 1-7 | 1-26, 27-55, 56-70, 71-84, 85-164, 165-211, 212-267, 268-342, 343-404 | Wild type | ||
| RAC1 | 2 | 13-35 | Wild type | ||
|
Case 5 (AFX and PDS, both tumors): EX6: c.672+1G>C AND EX8: c.818G>A p.R273H |
19.19/24.6 36.47/47.68 | Splice site base exchange Non-functional proteinneutral | |||
|
Case 6 (PDS): EX7: c.697C>T p.H233Y |
14.22 | neutral | |||
| TP53 | 5-9 | 126-186, 187-224, 225-261, 262-306, 307-331 |
Case 7 (PDS): EX6: c.637C>T p.R213*Case 8 (PDS) |
24.98 n/a |
Truncated protein |
|
Case 9 (PDS): EX6: c.585_586CC>>TT p.R196* AND EX7: c.712T>A p.C238S |
36.6 20.53 |
Truncated protein Non-functional protein | |||
|
Case 10 (PDS): EX5: c.490A>T p.K164* AND EX6: c.586C>T p.R196* |
22.56 9.98 |
Truncated protein Truncated protein |