Table 1.
Clinical and hematologic features of the MDS with RS (MDSRS+), stratified by genetic classification.
| Total (N = 129) | SF3B1 mutated N = 82 (64%) | SRSF2 mutated N = 15 (11%) | TP53M H N = 13 (10%) | NOS N = 19 (15%) | P | |
|---|---|---|---|---|---|---|
| Age (years) | 0.426 | |||||
| Mean (range) | 72.7 (20–88) | 73.3 (44–88) | 69.6 (53–83) | 69 (20–86) | 72.7 (20–88) | — |
| Gender | — | — | — | — | — | 0.067 |
| Female | 58 (45.0%) | 39 (47.6%) | 2 (13.3%) | 7 (53.8%) | 10 (52.6%) | — |
| Male | 71 (55.0%) | 43 (52.4%) | 13 (86.7%) | 6 (46.2%) | 9 (47.4%) | — |
| Diagnosis according to the WHO 2016 classification | <0.001 | |||||
| MDS RS MLD | 62 (48.1%) | 45 (54.9%) | 7 (46.7%) | 4 (30.8%) | 6 (31.6%) | — |
| MDS RS SLD | 23 (17.8%) | 23 (28%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | — |
| MDS MPN RS T | 7 (5.4%) | 2 (2.4%) | 0 (0.0%) | 0 (0.0%) | 5 (26.3%) | — |
| MDS MLD | 8 (6.2%) | 0 (0.0%) | 4 (26.7%) | 1 (7.7%) | 3 (15.8%) | — |
| MDS EB 1 | 11 (8.5%) | 6 (7.3%) | 0 (0.0%) | 3 (23.1%) | 2 (10.5%) | — |
| MDS EB 2 | 12 (9.3%) | 5 (6.1%) | 2 (13.3%) | 5 (38.5%) | 0 (0.0%) | — |
| AML MRC | 2 (1.6%) | 0 (0.0%) | 1 (6.7%) | 0 (0.0%) | 1 (5.3%) | — |
| MDS del5q | 1 (0.8%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (5.3%) | — |
| MDS UNS | 1 (0.8%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (5.3%) | — |
| CMML 2 | 1 (0.8%) | 1 (1.2%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | — |
| MDS MPN | 1 (0.8%) | 0 (0.0%) | 1 (6.7%) | 0 (0.0%) | 0 (0.0%) | — |
| WBC (×109/L) | 0.369 | |||||
| Mean (range) | 6.4 (1.4–34.6) | 6.2 (1.4–32.8) | 6.9 (1.7–34.6) | 5.1 (1.9–8.9) | 7.6 (1.5–18.2) | — |
| ANC (×109/L) | 0.263 | |||||
| Mean (range) | 3.7 (0.3–21.1) | 3.6 (0.3–18.5) | 3.6(0.3–18.5) | 2.7 (0.8–5.6) | 4.8(0.3–12.2) | — |
| Monocytes (×109/L) | 0.419 | |||||
| Mean (range) | 0.7 (0–10) | 0.6 (0–4.9) | 1.1 (0.1–10) | 0.5 (0–1) | 1.0 (0.1–4.7) | — |
| HB (g/dL) | 0.012 | |||||
| Mean (range) | 10.0 (6–14.6) | 10 (6–13.6) | 10.8 (8–14.2) | 8.8 (6–10.9) | 9.8 (7–14.6) | — |
| Platelets (×109/L) | <0.001 | |||||
| Mean (range) | 258 (23–1234) | 272.3 (57–715) | 144.9 (25–261) | 152.4 (23–389) | 357.7 (36–1234) | |
| BM Blasts (%) | <0.001 | |||||
| Mean (range) | 3.6 (0.5–20) | 2.9 (0.5–19) | 5.3 (1.5–18) | 6.5 (1–15) | 3.6 (1–20) | — |
| BM RS (%) | <0.001 | |||||
| Mean (range) | 37.1 (5–88) | 43.8 (9–88) | 24.2(6–73) | 25.2 (6–52) | 26.8 (5–75) | |
| BM Cellularity (%) | 0.051 | |||||
| Mean (range) | 63 (10–100) | 60.2 (20–100) | 66 (30–100) | 74.6 (50–100) | 64.8 (10–100) | |
| BM Erythroid cell (%) | 0.166 | |||||
| Mean (range) | 31.9 (3–83) | 33.1 (7.5–83) | 25.7 (8.5–43) | 36.3 (13.5–65) | 28.2 (3–80.5) | |
| IPSS-M | <0.001 | |||||
| Very Low | 37 (29%) | 32 (39%) | 2 (13%) | 0 | 3 (16%) | — |
| Low | 51 (39%) | 36 (44%) | 4 (27%) | 2 (15%) | 9 (48%) | — |
| Intermediate low | 8 (6%) | 3 (4%) | 3 (20%) | 1 (8%) | 1 (5%) | — |
| Intermediate high | 5 (4%) | 1 (1%) | 3 (20%) | 1 (8%) | 0 | — |
| High | 15 (12%) | 8 (10%) | 2 (13%) | 0 (%) | 5 (26%) | — |
| Very high | 13 (10%) | 2 (2%) | 1 (7%) | 9 (69%) | 1 (5%) | — |
| mOS | <0.0001 | |||||
| Median (IQR) | 5.5 years (1.7–9.5) | 7.6 years (4–9.5) | 3.3 years (1–5.9) | 0.7 years (0.3–1.7) | 4.4 years (1.6–4.9) | — |
| Total SNV hits | 0.034 | |||||
| Mean (range) | 3 (0–11) | 2.8 (1–6) | 4.2 (1–11) | 2.7 (1–5) | 2.9 (0–9) | — |
| Total CNV hits | <0.001 | |||||
| Mean (range) | 1.1 (0–11) | 0.5 (0–8) | 0.3 (0–2) | 6.2 (2–11) | 0.6 (0–2) | — |
Abbreviations: AML MRC, acute myeloid neoplasms with myelodysplastic related changes; ANC, absolute neutrophil count; CMML 2, chronic myelomonocytic neoplasms type 2; HB, hemoglobin; IQR, interquartile range; MDS MPN RS T, MDS/myeloproliferative neoplasms with RS and thrombocytosis; MH, multi hit mutated; MLD, multi lineage dysplasia; mOS, median overall survival; NOS, not otherwise specified; SLD, single lineage dysplasia; SNV, single-nucleotide variant; UNS, unspecified; WBC, white blood cell.