Study cohorts
| Diagnosis, subtype at diagnosis . | No. . | Median age, y (range) . | Female/male . | SRSF2 P95H/L/R/del . | SF3B1 K700E . | U2AF35 (S34Y/Q157P) . |
|---|---|---|---|---|---|---|
| Pediatric cohort, classified according to references 10,–12 | ||||||
| Primary MDS | ||||||
| RCC | 123 | 10.5 (1.5-17.9) | 54/69 | 0 | 0 | 1/0 |
| RAEB/RAEB-T | 56 | 10.4 (1.0-17.6) | 24/32 | 0 | 0 | 0/0 |
| MDR-AML | 8 | 12.8 (5.8-22.4) | 5/3 | 0 | 0 | 0/0 |
| Secondary MDS | 68 | 13.1 (0.6-25.4) | 25/43 | 0 | 0 | 0/0 |
| JMML | 116 | 1.4 (0.1-7.0) | 40/76 | 2 | 0 | 0/0 |
| Adult cohort, classified according to reference 13 | ||||||
| CMML | 5 | 76 (57-84) | 3/2 | 1 | 0 | 0/0 |
| RA | 12 | 59 (42-73) | 3/9 | 2 | 0 | 0/1 |
| RCMD | 5 | 68 (42-78) | 2/3 | 1 | 1 | 0/0 |
| RAEB-1/2 | 8 | 73 (68-83) | 3/5 | 3 | 0 | 0/1 |
| Diagnosis, subtype at diagnosis . | No. . | Median age, y (range) . | Female/male . | SRSF2 P95H/L/R/del . | SF3B1 K700E . | U2AF35 (S34Y/Q157P) . |
|---|---|---|---|---|---|---|
| Pediatric cohort, classified according to references 10,–12 | ||||||
| Primary MDS | ||||||
| RCC | 123 | 10.5 (1.5-17.9) | 54/69 | 0 | 0 | 1/0 |
| RAEB/RAEB-T | 56 | 10.4 (1.0-17.6) | 24/32 | 0 | 0 | 0/0 |
| MDR-AML | 8 | 12.8 (5.8-22.4) | 5/3 | 0 | 0 | 0/0 |
| Secondary MDS | 68 | 13.1 (0.6-25.4) | 25/43 | 0 | 0 | 0/0 |
| JMML | 116 | 1.4 (0.1-7.0) | 40/76 | 2 | 0 | 0/0 |
| Adult cohort, classified according to reference 13 | ||||||
| CMML | 5 | 76 (57-84) | 3/2 | 1 | 0 | 0/0 |
| RA | 12 | 59 (42-73) | 3/9 | 2 | 0 | 0/1 |
| RCMD | 5 | 68 (42-78) | 2/3 | 1 | 1 | 0/0 |
| RAEB-1/2 | 8 | 73 (68-83) | 3/5 | 3 | 0 | 0/1 |
RCC indicates refractory cytopenia of childhood; RAEB, refractory anemia with excess blasts; RAEB-T, RAEB in transformation; MDR-AML, myelodysplasia-related acute myeloid leukemia; RA, refractory anemia; RCMD, refractory cytopenia with multilineage dysplasia; RAEB-1, refractory anemia with excess blasts-1; RAEB-2, refractory anemia with excess blasts-2; P95H/L/R/del, mutation of amino acid residue proline 95 to histidine/leucine/arginine/deletion; K700E, lysine 700 to glutamic acid; S34Y, serine 34 to tyrosine; and Q157P, glutamine 157 to proline.