Clinical characteristics of patients with myelodysplastic syndromes and NPM1 mutations
| Variable . | Total population (N = 31) . | Treated with HMAs (n = 20) . | Treated with chemotherapy (n = 10) . | P . |
|---|---|---|---|---|
| Age, mean (SD), y | 62 (19-86) | 65 (32-86) | 52 (19-71) | .026 |
| Males, n (%) | 13 (42) | 11 (55) | 2 (20) | .074 |
| Hemoglobin, mean (SD), g/dL | 8.7 (8.2-9.2) | 8.6 (7.8-9.2) | 8.9 (8.1-9.9) | .387 |
| WBC, mean (SD), × 109/L | 7.9 (4.5-11.3) | 6.9 (4.0-9.7) | 10.4 (0.7-20.1) | .339 |
| Platelets, mean (SD), × 109/L | 85 (63-107) | 97 (64-129) | 65 (34-95) | .202 |
| ANC, mean (SD), × 109/L | 2.9 (0.5-5.2) | 2.5 (0.9-4.0) | 3.9 (0.2-11.3) | .570 |
| Median PB blasts, mean (SD), % | 1 (0-16) | 1 (0-14) | 2 (0-16) | .785 |
| Median BM blasts, mean (SD), % | 10 (0-19) | 10 (0-17) | 14 (4-19) | .076 |
| WHO diagnosis, n (%) | .500 | |||
| MDS-EB-1 | 3 (10) | 3 (15) | 0 (0) | |
| MDS-EB-2 | 16 (52) | 9 (45) | 7 (70) | |
| MDS del(5q) | 1 (3) | 0 (0) | 0 (0) | |
| MDS/MPN-U | 2 (6) | 1 (5) | 1 (10) | |
| aCML | 1 (3) | 0 (0) | 1 (10) | |
| CMML-0 | 1 (3) | 1 (5) | 0 (0) | |
| CMML-1 | 2 (6) | 2 (10) | 0 (0) | |
| CMML-2 | 3 (10) | 2 (10) | 1 (10) | |
| T-MDS* | 2 (6) | 1 (5) | 0 (0) | |
| IPSS, n (%) | .399 | |||
| Low | 1 (3) | 1 (5) | 0 (0) | |
| Intermediate-1 | 1 (3) | 0 (0) | 1 (10) | |
| Intermediate-2 | 16 (52) | 11 (55) | 4 (40) | |
| High | 13 (42) | 8 (40) | 5 (50) | |
| IPSS-R, n (%) | .577 | |||
| Intermediate | 13 (42) | 8 (40) | 4 (40) | |
| High | 12 (39) | 9 (45) | 3 (30) | |
| Very high | 6 (19) | 3 (15) | 3 (30) | |
| Karyotype, n (%) | .306 | |||
| Normal | 24 (77) | 16 (80) | 8 (80) | |
| del(5q) | 1 (3) | 0 (0) | 0 (0) | |
| Complex† | 1 (3) | 1 (5) | 0 (0) | |
| del(9q) | 2 (7) | 2 (10) | 0 (0) | |
| del(20q) | 1 (3) | 0 (0) | 1 (10) | |
| Trisomy 21 | 1 (3) | 1 (5) | 0 (0) | |
| Not available | 1 (3) | 0 (0) | 1 (10) | |
| Transplant, n (%) | 13 (42) | 6 (30) | 7 (70) |
| Variable . | Total population (N = 31) . | Treated with HMAs (n = 20) . | Treated with chemotherapy (n = 10) . | P . |
|---|---|---|---|---|
| Age, mean (SD), y | 62 (19-86) | 65 (32-86) | 52 (19-71) | .026 |
| Males, n (%) | 13 (42) | 11 (55) | 2 (20) | .074 |
| Hemoglobin, mean (SD), g/dL | 8.7 (8.2-9.2) | 8.6 (7.8-9.2) | 8.9 (8.1-9.9) | .387 |
| WBC, mean (SD), × 109/L | 7.9 (4.5-11.3) | 6.9 (4.0-9.7) | 10.4 (0.7-20.1) | .339 |
| Platelets, mean (SD), × 109/L | 85 (63-107) | 97 (64-129) | 65 (34-95) | .202 |
| ANC, mean (SD), × 109/L | 2.9 (0.5-5.2) | 2.5 (0.9-4.0) | 3.9 (0.2-11.3) | .570 |
| Median PB blasts, mean (SD), % | 1 (0-16) | 1 (0-14) | 2 (0-16) | .785 |
| Median BM blasts, mean (SD), % | 10 (0-19) | 10 (0-17) | 14 (4-19) | .076 |
| WHO diagnosis, n (%) | .500 | |||
| MDS-EB-1 | 3 (10) | 3 (15) | 0 (0) | |
| MDS-EB-2 | 16 (52) | 9 (45) | 7 (70) | |
| MDS del(5q) | 1 (3) | 0 (0) | 0 (0) | |
| MDS/MPN-U | 2 (6) | 1 (5) | 1 (10) | |
| aCML | 1 (3) | 0 (0) | 1 (10) | |
| CMML-0 | 1 (3) | 1 (5) | 0 (0) | |
| CMML-1 | 2 (6) | 2 (10) | 0 (0) | |
| CMML-2 | 3 (10) | 2 (10) | 1 (10) | |
| T-MDS* | 2 (6) | 1 (5) | 0 (0) | |
| IPSS, n (%) | .399 | |||
| Low | 1 (3) | 1 (5) | 0 (0) | |
| Intermediate-1 | 1 (3) | 0 (0) | 1 (10) | |
| Intermediate-2 | 16 (52) | 11 (55) | 4 (40) | |
| High | 13 (42) | 8 (40) | 5 (50) | |
| IPSS-R, n (%) | .577 | |||
| Intermediate | 13 (42) | 8 (40) | 4 (40) | |
| High | 12 (39) | 9 (45) | 3 (30) | |
| Very high | 6 (19) | 3 (15) | 3 (30) | |
| Karyotype, n (%) | .306 | |||
| Normal | 24 (77) | 16 (80) | 8 (80) | |
| del(5q) | 1 (3) | 0 (0) | 0 (0) | |
| Complex† | 1 (3) | 1 (5) | 0 (0) | |
| del(9q) | 2 (7) | 2 (10) | 0 (0) | |
| del(20q) | 1 (3) | 0 (0) | 1 (10) | |
| Trisomy 21 | 1 (3) | 1 (5) | 0 (0) | |
| Not available | 1 (3) | 0 (0) | 1 (10) | |
| Transplant, n (%) | 13 (42) | 6 (30) | 7 (70) |
One patient was treated with single-agent lenalidomide and is included only in the total population.
aCML, atypical chronic myeloid leukemia; ANC, absolute neutrophil count; HMAs, hypomethylating agents; MDS-U, MDS unclassifiable; PB, peripheral blood; SD, standard deviation; T-MDS, therapy-related MDS; WBC, white blood cell count.
Of the 2 patients with T-MDS, both were classifiable as MDS with multilineage dysplasias.
Complex, defined as the presence of ≥3 abnormalities.