Table 1. The mutation patterns in 54 patients with SF3B1/U2AF1/SRSF2 mutations at diagnosis.
| UPN | Age/Sex | FAB | RNA Splicing mutation | Other accompanied gene mutations | ||
|---|---|---|---|---|---|---|
| Location | DNA change | Protein change | ||||
| SF3B1 (n=12) | ||||||
| 1 | 65/F | 1 | Exon 15 | c.2112_2117dup | S705_A706dup | NRAS, ASXL1 |
| 2 | 77/M | 1 | Exon 14 | c.1998G>C | K666N | RUNX1, DNMT3A |
| 3 | 67/F | 1 | Exon 14 | c.1998G>C | K666N | RUNX1, TET2, P53 |
| 4 | 53/F | 1 | Exon 14 | c.1998G>C | K666N | CEBPA, RUNX1 |
| 5 | 73/F | 1 | Exon 15 | c.2098A>G | K700E | CEBPA, TET2, DNMT3A |
| 6 | 62/M | 2 | Exon 14 | c.1996A>C | K666Q | FLT3/ITD, MLL/PTD, RUNX1 |
| 7 | 70/M | 4 | Exon 14 | c.1988C>T | T663I | NPM1 |
| 8 | 31/M | 3 | Exon 14 | c.1998G>C | K666N | — |
| 9 | 43/F | 1 | Exon 15 | c.2098A>G | K700E | P53 |
| 10 | 82/M | 4 | Exon 14 | c.1998G>C | K666N | FLT3/ITD, MLL/PTD, RUNX1 |
| 11 | 86/M | 5 | Exon 14 | c.1873C>T | R625C | FLT3/ITD, DNMT3A |
| 12 | 70/M | 2 | Exon 15 | c.2098A>G | K700E | NPM1, FLT3/ITD, DNMT3A, IDH2 |
| U2AF1 (n=15) | ||||||
| 13 | 40/M | 1 | Exon 2 | c.101C>T | S34F | IDH2 |
| 14 | 22/M | 4 | Exon 6 | c.470A>G | Q157R | FLT3/TKD, ASXL1 |
| 15 | 54/M | 4 | Exon 2 | c.101C>A | S34Y | PTPN11, ASXL1, DNMT3A |
| 16 | 75/M | 4 | Exon 2 | c.101C>T | S34F | KRAS |
| 17 | 72/M | 1 | Exon 6 | c.470A>C | Q157P | ASXL1, IDH1, TET2 |
| 18 | 52/M | 0 | Exon 2 | c.101C>T | S34F | ASXL1 |
| Exon 6 | c.470A>G | Q157R | ||||
| 19 | 47/M | 4 | Exon 2 | c.101C>A | S34Y | PTPN11 |
| 20 | 43/M | 2 | Exon 2 | c.101C>T | S34F | WT1 |
| 21 | 71/F | 2 | Exon 2 | c.101C>T | S34F | CEBPA, NRAS, TET2 |
| 22 | 66/M | 2 | Exon 6 | c.476_477insGTATGA | E159_M160insYE | NRAS, IDH2 |
| 23 | 47/M | 1 | Exon 2 | c.101C>T | S34F | — |
| 24 | 48/M | 6 | Exon 6 | c.470A>C | Q157P | RUNX1 |
| 25 | 44/F | 0 | Exon 2 | c.101C>T | S34T | — |
| 26 | 46/M | 2 | Exon 2 | c.101C>A | S34Y | FLT3/ITD, MLL/PTD |
| 27 | 71/F | 4 | Exon 6 | c.470A>C | Q157P | NRAS, IDH2 |
| SRSF2 (n=27) | ||||||
| 28 | 89/M | 4 | Exon 2 | c.284_307del | P95_R102del | RUNX1, IDH2 |
| 29 | 80/M | U | Exon 2 | c.284C>T | P95L | — |
| 30 | 71/M | 4 | Exon 2 | c.284C>A | P95H | TET2 |
| 31 | 73/M | U | Exon 2 | c.284C>G | P95R | — |
| 32 | 67/M | U | Exon 2 | c.284C>A | P95H | ASXL1, IDH2 |
| 33 | 85/F | 2 | Exon 2 | c.284C>T | P95L | CEBPA, ASXL1, TET2 |
| 34 | 66/M | 2 | Exon 2 | c.284C>A | P95H | NPM1, RUNX1, ASXL1 |
| 35 | 70/M | 5 | Exon 2 | c.284C>A | P95H | ASXL1, TET2 |
| 36 | 65/M | 1 | Exon 2 | c.284C>G | P95R | IDH1 |
| 37 | 64/M | 2 | Exon 2 | c.284C>T | P95L | CEBPA, IDH2 |
| 38 | 42/F | 4 | Exon 2 | c.284C>A | P95H | FLT3/ITD, RUNX1, ASXL1, DNMT3A |
| 39 | 75/M | 5 | Exon 2 | c.284C>A | P95H | NPM1, ASXL1, TET2 |
| 40 | 84/M | 0 | Exon 2 | c.284C>T | P95L | RUNX1, IDH2, DNMT3A |
| 41 | 68/M | 4 | Exon 2 | c.284C>T | P95L | RUNX1, TET2 |
| 42 | 66/M | 4 | Exon 2 | c.284C>A | P95H | NRAS, ASXL1 |
| 43 | 63/M | 2 | Exon 2 | c.284C>A | P95H | NRAS, TET2 |
| 44 | 72/M | 1 | Exon 2 | c.284C>G | P95R | RUNX1, IDH1 |
| 45 | 82/M | 5 | Exon 2 | c.284C>T | P95L | RUNX1, ASXL1, TET2 |
| 46 | 70/M | 4 | Exon 2 | c.284C>A | P95H | KRAS, RUNX1 |
| 47 | 48/F | 1 | Exon 2 | c.284C>A | P95H | CEBPA, IDH2, DNMT3A |
| 48 | 71/M | 1 | Exon 2 | c.283_284insGCC | R94_p95insR | RUNX1, TET2 |
| 49 | 77/F | 4 | Exon 2 | c.284C>A | P95H | NPM1, TET2 |
| 50 | 87/M | 2 | Exon 2 | c.284C>T | P95L | NPM1, FLT3/ITD, TET2 |
| 51 | 63/F | 4 | Exon 2 | c.284C>G | P95R | PTPN11, IDH2 |
| 52 | 90/M | 2 | Exon 2 | c.284C>T | P95L | CEBPA, ASXL1, TET2, P53 |
| 53 | 69/M | 4 | Exon 2 | c.284C>A | P95H | NRAS, FLT3/TKD, RUNX1, IDH2, DNMT3A |
| 54 | 44/M | 1 | Exon 2 | c.284_307del | P95_R102del | RUNX1, IDH2 |
Abbreviations: UPN, unique patient number; FAB, French-American-British; U, undetermined.