Table 1.
Demographic, Clinical, Pathologic, and Genetic Characteristics of SF3B1-Mutated Myeloid Disorders
| Total | CCUS | MDS | MDS/MPN | MPN | AML | SM | |
|---|---|---|---|---|---|---|---|
| Patients, No. (%) | 75 | 3 (4) | 40 (53) | 12 (16) | 8 (11) | 11(15) | 1 (1) |
| Female sex, No. | 25 | 0 | 15 | 3 | 2 | 4 | 1 |
| Male sex, No. | 50 | 3 | 25 | 9 | 6 | 7 | 0 |
| Age, median (range), y | 73 (35-89) | 73 (72-76) | 74 (47-85) | 73 (53-89) | 71 (57-80) | 69 (35-85) | 68 |
| Progression to AML, No. | 5 | 0 | 5 | 0 | 0 | NA | 0 |
| Death, No. | 25 | 1 | 11 | 5 | 2 | 6 | 0 |
| Hemoglobin, median (range), g/dL | NA | 9.3 (7.5-9.5) | 8.7 (6.0-12.6) | 9.0 (6.1-11.4) | 9.7 (7.1-17.6) | 8.1 (6.5-11.6) | 11.8 |
| RDW, median (range), % | NA | 15.6 (14.7-16.9) | 18.4 (14.1-23.4) | 22.6 (16.9-22.8) | 19.9 (17.2-25.6) | 19.3 (15.7-26.9) | 21.3 |
| WBC, median (range), ×109/L | NA | 3.5 (3.0-33.7) | 4.5 (1.2-103.2) | 7.1 (2.5-23.0) | 10.8 (3.5-41.7) | 2.7 (0.2-27.5) | 11.2 |
| Platelet count, median (range), ×109/L | NA | 63 (38-73) | 199 (18-632) | 435 (156-791) | 191 (32-664) | 79 (21-274) | 32 |
| Ring sideroblasts, median (range), % | NA | 0 (0) | 16 (0-90) | 50 (15-75) | 0 (0) | 15 (0-30) | 0 |
| SF3B1 VAF, median (range), % | NA | 26 (6-27) | 38 (6-48) | 36 (13-48) | 34 (6-48) | 35 (14-46) | 5 |
| SF3B1 mutation position | |||||||
| p.E622 | 1 | 1 | |||||
| p.Y623 | 1 | 1 | 1 | ||||
| p.R625 | 5 | 4 | 1 | ||||
| p.N626 | 1 | 1 | |||||
| p.Q659 | 1 | 1 | |||||
| p.H662 | 6 | 1 | 2 | 2 | 3 | ||
| p.K666 | 15 | 6 | 4 | 3 | 1 | 1 | |
| p.K700 | 38 | 1 | 23 | 6 | 3 | 5 | |
| p.K741 | 1 | 1 | |||||
| p.G742 | 1 | 1 | |||||
| p.D781 | 1 | 1 | 1 | ||||
| No. of comutations, median (range) | NA | 0 (0-1) | 1 (0-5) | 1 (0-3) | 3 (1-5) | 2 (1-5) | 0 |
| Abnormal karyotype, No. | 27 | 0 | 8 | 6 | 5 | 8 | 0 |
AML, acute myeloid leukemia; CCUS, clonal cytopenia with undetermined significance; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasm; NA, not applicable; RDW, red cell distribution of width; SM, systemic mastocytosis; VAF, variant allele frequency.