Sequential studies in the 8 MDS patients with SRSF2 mutation
| Patient no. . | Time after the initial BM sampling . | Diagnosis . | Karyotype . | SRSF2 mutation . | Other mutations . |
|---|---|---|---|---|---|
| 1 | (Initial) | RAEBT | 46,XY | P95H | N-RAS, RUNX1, |
| 33 mo | AML | 45,XY,-4, der(17),t(4;17)(q12;p11.2) | P95H | N-RAS, RUNX1, ASXL1 | |
| 2 | (Initial) | CMML | 46,XY | P95H | N-RAS, RUNX1, |
| 6 mo | CMML | 46,XY | P95H | N-RAS, RUNX1, | |
| 3 | (Initial) | RAEBT | 46,XY | P95H | ASXL1 |
| 4 mo | AML | 46,XY | P95H | K-RAS, ASXL1, | |
| 4 | (Initial) | RARS | 46,XX | P95H | IDH2 |
| 17 mo | RARS | 46,XX | P95H | ASXL1, IDH2, | |
| 5 | (Initial) | RAEB | 46,XY | P95L | RUNX1, ASXL1 |
| 26 mo | AML | Not done | P95L | RUNX1, ASXL1 | |
| 31 mo | AML | 46,XY | P95L | RUNX1, ASXL1 | |
| 6 | (Initial) | RA | 46,XY | P95_R102del | RUNX1 |
| 3 mo | RAEB | 50,XY,del(11)(q13q23),+13,+15,+18 | P95_R102del | RUNX1 | |
| 7 | (Initial) | RA | 46,XX,i(17)(q10) | P95_R102del | |
| 12 mo | AML | 46,XY,-7,i(17)(q10) | P95_R102del | ASXL1, | |
| 8 | (Initial) | RA | 47,XY,+8 | P95_D97del | ASXL1, RUNX1, IDH2 |
| 6 mo | AML | 46,XY | P95_D97del | RUNX1, IDH2 |
| Patient no. . | Time after the initial BM sampling . | Diagnosis . | Karyotype . | SRSF2 mutation . | Other mutations . |
|---|---|---|---|---|---|
| 1 | (Initial) | RAEBT | 46,XY | P95H | N-RAS, RUNX1, |
| 33 mo | AML | 45,XY,-4, der(17),t(4;17)(q12;p11.2) | P95H | N-RAS, RUNX1, ASXL1 | |
| 2 | (Initial) | CMML | 46,XY | P95H | N-RAS, RUNX1, |
| 6 mo | CMML | 46,XY | P95H | N-RAS, RUNX1, | |
| 3 | (Initial) | RAEBT | 46,XY | P95H | ASXL1 |
| 4 mo | AML | 46,XY | P95H | K-RAS, ASXL1, | |
| 4 | (Initial) | RARS | 46,XX | P95H | IDH2 |
| 17 mo | RARS | 46,XX | P95H | ASXL1, IDH2, | |
| 5 | (Initial) | RAEB | 46,XY | P95L | RUNX1, ASXL1 |
| 26 mo | AML | Not done | P95L | RUNX1, ASXL1 | |
| 31 mo | AML | 46,XY | P95L | RUNX1, ASXL1 | |
| 6 | (Initial) | RA | 46,XY | P95_R102del | RUNX1 |
| 3 mo | RAEB | 50,XY,del(11)(q13q23),+13,+15,+18 | P95_R102del | RUNX1 | |
| 7 | (Initial) | RA | 46,XX,i(17)(q10) | P95_R102del | |
| 12 mo | AML | 46,XY,-7,i(17)(q10) | P95_R102del | ASXL1, | |
| 8 | (Initial) | RA | 47,XY,+8 | P95_D97del | ASXL1, RUNX1, IDH2 |
| 6 mo | AML | 46,XY | P95_D97del | RUNX1, IDH2 |
The result of sequential analysis of the 58 patients without SRSF2 mutation at diagnosis is not shown; none of these patients acquired SRSF2 mutation. Thirty-one of them had disease progression, including 23 patients with transformation to AML during the clinical course.