Table 5. Sequential studies in the AML patients with SF mutations*.
| UPN | Interval† (months) |
Status | karyotype | SF mutation | Other mutations |
|---|---|---|---|---|---|
| 3 | Initial | 46,XX | SF3B1 (K666N) | RUNX1, TET2, P53 | |
| 4 | CR | ND | — | ||
| 7.5 | Relapse | ND | SF3B1 (K666N) | RUNX1, TET2, P53, FLT3/ITD | |
| 8 | Initial | 46,XY,t(15;17)(q22;q21) | SF3B1 (K666N) | — | |
| 12 | Relapse | 46,XY,t(15;17)(q22;q21) | SF3B1 (K666N) | ASXL1 | |
| 14 | Initial | 45,XY,-7 | U2AF1 (Q157R) | FLT3/TKD, ASXL1 (P1377SfsX3) | |
| 4 | CR | 46,XY | — | — | |
| 16.5 | Relapse | ND | U2AF1 (Q157R) | ASXL1 (S1255X) | |
| 15 | Initial | 46,XY | U2AF1 (S34Y) | PTPN11, ASXL1, DNMT3A | |
| 5.4 | CR | ND | — | — | |
| 22 | Initial | 47,XY,+8 | U2AF1 (E159_M160insYE) | NRAS, IDH2 | |
| 4.2 | CR1 | 46,XY | U2AF1 (E159_M160insYE) | — | |
| 11 | Relapse 1 | 48,XY,+8,+15 | U2AF1 (E159_M160insYE) | NRAS, IDH2 | |
| 2 | CR2 | ND | U2AF1 (E159_M160insYE) | — | |
| 8 | Relapse 2 | 46-48,XY,+X,+15 | U2AF1 (E159_M160insYE) | NRAS, IDH2 | |
| 26 | Initial | 47,XY,+11 | U2AF1 (S34Y) | FLT3/ITD, MLL/PTD | |
| 8.7 | Relapse | ND | U2AF1 (S34Y) | FLT3/ITD, MLL/PTD | |
| 34 | Initial | 46,XY,del(7)(q22q36) | SRSF2 (P95H) | NPM1, RUNX1, ASXL1 | |
| 5.5 | CR1 | 46,XY | — | ASXL1 | |
| 4 | Relapse 1 | 46,XY | SRSF2 (P95H) | NPM1, RUNX1, ASXL1 | |
| 36 | Initial | 48,XY,+add(1)(p13),+8 | SRSF2 (P95R) | IDH1 | |
| 1 | CR1 | 46,XY | — | — | |
| 7.5 | Relapse 1 | 46,XY | SRSF2 (P95R)†† | IDH1 | |
| 37 | Initial | 46,XY | SRSF2 (P95L) | CEBPA, IDH2 | |
| 2.5 | CR1 | ND | — | — | |
| 47 | Initial | 47,XX,+8 | SRSF2 (P95H) | CEBPA, IDH2, DNMT3A | |
| 2 | CR1 | 46,XX | — | — | |
| 54 | Initial | 46,XY | SRSF2 (P95_R102del) | RUNX1, IDH2 | |
| 5 | CR1 | ND | — | — |
Abbreviations: UPN, unique patient number; CR, complete remission; ND, not done.
*
The data of serial studies in other 152 patients, who did not have SF mutation both at diagnosis and relapse were not shown in this table
†
Interval between the two successive status
††
The SRSF2 (patient 36) mutation could be detected by TA cloning (one out of 45 clones), but not by direct sequencing, at relapse.