Characteristics of 54 patients with MDS with UBA1 mutations; table is split by UBA1 mutation: p.M41, non-p.M41 pathogenic, and VUS
| Characteristic . | p.M41T/V/L, n = 33∗ . | Other pathogenic, n = 7∗ . | VUS, n = 14∗ . |
|---|---|---|---|
| Age (y) at sample time | 73 (65-79) | 69 (64-73) | 72 (55-77) |
| WHO 2016 classification | |||
| MDS-SLD/MLD | 20 (62%) | 4 (57%) | 6 (43%) |
| MDS-RS-SLD/MLD | 0 (0%) | 1 (14%) | 1 (7.1%) |
| MDS/MPN-RS-T | 1 (3.1%) | 0 (0%) | 0 (0%) |
| MDS-U | 2 (6.2%) | 1 (14%) | 0 (0%) |
| MDS/MPN-U | 1 (3.1%) | 0 (0%) | 0 (0%) |
| MDS-EB1/2 | 4 (12%) | 0 (0%) | 5 (36%) |
| CMML | 2 (6.2%) | 0 (0%) | 1 (7.1%) |
| aCML | 2 (6.2%) | 0 (0%) | 0 (0%) |
| AML | 0 (0%) | 1 (14%) | 1 (7.1%) |
| Unknown | 1 | 0 | 0 |
| IPSS-M | |||
| Very-low | 7 (23%) | 2 (33%) | 1 (9.1%) |
| Low | 16 (52%) | 2 (33%) | 3 (27%) |
| Moderate-low | 4 (13%) | 0 (0%) | 1 (9.1%) |
| Moderate-high | 2 (6.5%) | 2 (33%) | 2 (18%) |
| High | 2 (6.5%) | 0 (0%) | 2 (18%) |
| Very-high | 0 (0%) | 0 (0%) | 2 (18%) |
| Unknown | 2 | 1 | 3 |
| Sex | |||
| F | 0 (0%) | 0 (0%) | 3 (21%) |
| M | 33 (100%) | 7 (100%) | 11 (79%) |
| Bone marrow blast (%) | 2.00 (1.00-4.00) | 1.00 (1.00-1.00) | 4.00 (3.00-8.00) |
| Unknown | 0 | 0 | 1 |
| White blood count (×109/L) | 4.30 (3.42-7.61) | 2.45 (2.04-4.95) | 3.80 (2.59-5.23) |
| Unknown | 2 | 1 | 2 |
| Absolute neutrophil count (×109/L) | 3.00 (1.80-4.66) | 1.10 (0.94-3.23) | 1.58 (1.00-2.84) |
| Unknown | 1 | 0 | 2 |
| Monocytes (×109/L) | 0.31 (0.10-0.52) | 0.36 (0.20-0.65) | 0.10 (0.10-0.44) |
| Unknown | 5 | 2 | 3 |
| Hemoglobin (g/dL) | 10.45 (8.75-11.15) | 9.90 (8.48-11.60) | 10.35 (8.17-11.07) |
| Unknown | 1 | 0 | 0 |
| Platelets (×109/L) | 118 (86-174) | 57 (25-65) | 50 (31-70) |
| Unknown | 1 | 0 | 1 |
| Characteristic . | p.M41T/V/L, n = 33∗ . | Other pathogenic, n = 7∗ . | VUS, n = 14∗ . |
|---|---|---|---|
| Age (y) at sample time | 73 (65-79) | 69 (64-73) | 72 (55-77) |
| WHO 2016 classification | |||
| MDS-SLD/MLD | 20 (62%) | 4 (57%) | 6 (43%) |
| MDS-RS-SLD/MLD | 0 (0%) | 1 (14%) | 1 (7.1%) |
| MDS/MPN-RS-T | 1 (3.1%) | 0 (0%) | 0 (0%) |
| MDS-U | 2 (6.2%) | 1 (14%) | 0 (0%) |
| MDS/MPN-U | 1 (3.1%) | 0 (0%) | 0 (0%) |
| MDS-EB1/2 | 4 (12%) | 0 (0%) | 5 (36%) |
| CMML | 2 (6.2%) | 0 (0%) | 1 (7.1%) |
| aCML | 2 (6.2%) | 0 (0%) | 0 (0%) |
| AML | 0 (0%) | 1 (14%) | 1 (7.1%) |
| Unknown | 1 | 0 | 0 |
| IPSS-M | |||
| Very-low | 7 (23%) | 2 (33%) | 1 (9.1%) |
| Low | 16 (52%) | 2 (33%) | 3 (27%) |
| Moderate-low | 4 (13%) | 0 (0%) | 1 (9.1%) |
| Moderate-high | 2 (6.5%) | 2 (33%) | 2 (18%) |
| High | 2 (6.5%) | 0 (0%) | 2 (18%) |
| Very-high | 0 (0%) | 0 (0%) | 2 (18%) |
| Unknown | 2 | 1 | 3 |
| Sex | |||
| F | 0 (0%) | 0 (0%) | 3 (21%) |
| M | 33 (100%) | 7 (100%) | 11 (79%) |
| Bone marrow blast (%) | 2.00 (1.00-4.00) | 1.00 (1.00-1.00) | 4.00 (3.00-8.00) |
| Unknown | 0 | 0 | 1 |
| White blood count (×109/L) | 4.30 (3.42-7.61) | 2.45 (2.04-4.95) | 3.80 (2.59-5.23) |
| Unknown | 2 | 1 | 2 |
| Absolute neutrophil count (×109/L) | 3.00 (1.80-4.66) | 1.10 (0.94-3.23) | 1.58 (1.00-2.84) |
| Unknown | 1 | 0 | 2 |
| Monocytes (×109/L) | 0.31 (0.10-0.52) | 0.36 (0.20-0.65) | 0.10 (0.10-0.44) |
| Unknown | 5 | 2 | 3 |
| Hemoglobin (g/dL) | 10.45 (8.75-11.15) | 9.90 (8.48-11.60) | 10.35 (8.17-11.07) |
| Unknown | 1 | 0 | 0 |
| Platelets (×109/L) | 118 (86-174) | 57 (25-65) | 50 (31-70) |
| Unknown | 1 | 0 | 1 |
Characteristics of patients with UBA1-mutated MDS (n = 54).
aCML, atypical chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; EB1/2, excess blasts 1/2; F, female; M, male; MDS-U; MDS-unclassifiable; MLD, multilineage dysplasia; MPN-U, MPN-unclassifiable; SLD, single-lineage dysplasia.
Median (interquartile range); n (%)