Table 1.
Baseline characteristics of the study population by ASXL1 mutation status (frameshift and nonsense)
| MDS cohort | CMML cohort | |||
|---|---|---|---|---|
| ASXL1 MT | ASXL1 WT | ASXL1 MT | ASXL1 WT | |
| n = 36 | n = 159 | n = 28 | n = 32 | |
| Median age (years) | 74 (51–92) | 72 (34–100) | 74 (48–88) | 74 (57–94) |
| Male | 25 (69%) | 99 (62%) | 21 (75%) | 20 (63%) |
| Female | 11 (31%) | 60 (38%) | 7 (25%) | 12 (37%) |
| Median hemoglobin (g/dl) | 9.1 | 9.4 | 10.1 | 10.9 |
| Median platelets (G/L) | 65 | 90 | 92 | 75 |
| Median ANC | 1.32 | 1.42 | 7.87 | 5.67 |
| Median monocyte count | 0.22 | 0.24 | 1.96 | 2.58 |
| Median BM Blast % | 4 | 4 | 4 | 4 |
| IPSS | ||||
| Low | 5 (14%) | 40 (25%) | 12 (43%) | 15 (47%) |
| Intermediate 1 | 17 (47%) | 50 (31%) | 10 (36%) | 13 (41%) |
| Intermediate 2 | 3 (8%) | 37 (23%) | 3 (11%) | 4 (12%) |
| High | 9 (25%) | 32 (20%) | 3 (11%) | 0 (0%) |
| # of mutations (median) | 2* | 1 | 3 | 2 |
| ASXL1 Mutationa | ||||
| ASXL1 c.1934dupG | 7 (19%) | 8 (29%) | ||
| Frameshift | 25 (69%) | 18 (64%) | ||
| Nonsense | 11 (31%) | 10 (36%) | ||
| HMA treatment | 25 (69%) | 89 (56%) | 16 (57%) | 15 (47%) |
| Allo-HSCT | 7 (19%) | 23 (15%) | 3 (11%) | 4 (13%) |
| Median OS (months) | 15.5 | 17.9 | 11.9** | NR |
MDS myelodysplastic syndrome, CMML chronic myelomonocytic leukemia, MT mutant, WT, wild type, ANC absolute neutrophil count, BM bone marrow, IPSS international prognostic scoring system, HMA hypomethylating agent, allo-HSCT allogeneic hematopoetic stem cell transplantation, OS overall survival *P < 0.0001; **P = 0.02
a ASXL1 missense mutations occurred in 29% (n = 15) and 7% (n = 2) of the MDS and CMML cohorts, respectively