Table 2.
Genetic Findings in Patients With Myelodysplastic Syndrome Harboring SF3B1 Mutations With TF Comutations and/or Progression to AML
| Case No. | Age, y/Sex | Diagnosis | Chromosome Results | NGS Results | Time to AML, mo |
|---|---|---|---|---|---|
| 47 | 76/Ma | MDS-EB1 | 46,XY[20] | RUNX1:p.R174Qln (37%) | 26.4 |
| SF3B1: p.K666N (42%) | |||||
| TET2: p.Q1020a (41%) | |||||
| 13 | 79/Ma | MDS-F | 46,Y,t(X;8)(q22;q24.1)[12]/46,XY[8] | GATA2: p.S251Cfsa29 (38%) | 15.6 |
| SF3B1:p.K700E (46%) | |||||
| 54 | 76/Fa | MDS-RS-SLD | 46,XX,-2,-20,+2mar[2]/46,XX[18] | GATA2:p.L321F (6%) | 19.2 |
| SF3B1:p.K700E (10%) | |||||
| TET2: p.P1575Qfsa21 (10%) | |||||
| 67 | 80/Fa | MDS-RS-SLD | 46,XX[20] | ASXL1: p.G646Wfsa12 (34%) | NA |
| GATA2:p.A234Gfsa45 (32%) | |||||
| GATA2: p.T387_M388del (34%) | |||||
| SF3B1: p.K666N (48%) | |||||
| SRSF2: p.P95A (46%) | |||||
| 12 | 59/Ma | MDS-RS-MLD | 46,XY,+1,der(1;7)(q10;p10)[6]/47,idem,+8[14] | GATA2: p.K389_Q394del (23%) | NA |
| SF3B1: p.K700E (28%) | |||||
| 30 | 73/Ma | MDS-RS-SLD | ND | RUNX1:p.G172Q (40%)SF3B1: p.H662Q (41%) | NA |
| 72 | 77/Fa | MDS-RS-MLD | 46,XX,del(11)(q13q23)[3]/46,XX[17] | BCOR: p.N575Qfsa36 (34%) | NA |
| CEBPA: p.F31Gfsa72 (15%) | |||||
| DNMT3A: p.E774a (41%) | |||||
| RUNX1:p.R174Q (38%) | |||||
| SF3B1:p.K700E (39%) | |||||
| TET2: p.S657Hfsa43 (34%) | |||||
| 71 | 77/Ma | MDS-EB1 | 46,XY[20] | BCOR: p.Q1653Kfsa21 (41%) | NA |
| BCOR: p.R1661a (5%) | |||||
| SF3B1: p.R625C (38%) | |||||
| 3 | 68/M | MDS-RS-SLD | 46,XY[20] | SF3B1: p.K700E (38%) | 47.5 |
AML, acute myeloid leukemia; MDS-EB1, myelodysplastic syndrome with excess blasts-1; MDS-F, myelodysplastic syndrome with fibrosis; MDS-RS-MLD, myelodysplastic syndrome with ring sideroblasts–multilineage dysplasia; MDS-RS-SLD, myelodysplastic syndrome with ring sideroblasts–single lineage dysplasia; NGS, next-generation sequencing; NA, not applicable; ND, not determined; TF, transcription factor.
aCases harboring TF mutations.