Table 1.
Clinical characteristics of CCUS and LR-MDS
| Variables | All patients with CCUS and LR-MDS (n = 187) | CCUS (n = 75) | LR-MDS (n = 112) | P |
|---|---|---|---|---|
| Demographics, median (range) | ||||
| Age, y | 66 (20-91) | 65 (20-90) | 67 (37-91) | .796 |
| Sex; males, n (%) | 118 (63.1) | 51 (68) | 67 (59.8) | .282 |
| Blood counts at diagnosis, median (range) | ||||
| HGB, g/dL | 10.6 (5.8-15.9) | 10.8 (6.7-15.9) | 10.4 (5.8-14.4) | .307 |
| MCV, fL | 99.7 (80.4-120.2) | 99.6 (80.4-117.2) | 99.6 (81.5-120.2) | .850 |
| WBC, ×109/L | 4.7 (0.9-13.1) | 4.1 (1.2-13.1) | 5.1 (0.9-13.1) | .002 |
| ANC, ×109/L | 2.5 (0.04-9.4) | 2.1 (0.04-9.4) | 2.7 (0.2-9.4) | .008 |
| AMC, ×109/L | 0.4 (0-3.6) | 0.5 (0.01-3.6) | 0.3 (0-1.1) | .007 |
| PLT, ×109/L | 196 (12-599) | 140 (10-595) | 232 (12-599) | <.001 |
| Myelocytes, % | 0.9 (0-24) | 1.1 (0-24) | 0.7 (0-19) | .324 |
| Metamyelocytes, % | 0.5 (0-11) | 0.5 (0-11) | 0.4 (0-10) | .647 |
| Peripheral blasts, % | 0.04 (0-2) | 0.03 (0-1) | 0.04 (0-2) | .796 |
| Transfusion dependency, n (%)* | ||||
| Red blood cell | 66 (35.3) | 17 (22.6) | 49 (43.7) | .003 |
| Low burden | 32 (48.5) | 9 (53) | 23 (46.9) | |
| High burden | 35 (53) | 9 (53) | 26 (53.1) | .025 |
| Platelets | 24 (12.8) | 9 (12) | 15 (13.4) | .827 |
| Bone marrow characteristics, n (%) | ||||
| Hypercellular | 132 (71) | 43 (57.3) | 89 (83.2) | .001 |
| Hypocellular | 14 (7.8) | 5 (6.9) | 9 (8.4) | .784 |
| Normocellular | 33 (18.3) | 24 (33.3) | 9 (8.4) | <.001 |
| Abnormal MDS flow cytometry | 22 (11.7) | 12 (16) | 10 (8.9) | <.001 |
| BM ring sideroblasts, median (range), % | 16 (0-75) | 2 (0-5) | 24 (0-75) | <.001 |
| BM blasts, median (range), % | 1.1 (0-15) | 0.7 (0-5) | 1.4 (0-15) | .002 |
| Abnormal cytogenetics | 44 (23.5) | 16 (21.3) | 28 (25) | .602 |
| Mutation present on NGS | 163 (87.2) | 67 (89.3) | 96 (85.7) | .251 |
| 1 mutation | 61 (37.4) | 22 (32.8) | 39 (40.6) | .329 |
| >1 mutation | 102 (62.6) | 45 (67.2) | 57 (59.4) | |
| IPSS-R cytogenetic risk category, n (%) | ||||
| Very good | 8 (4.3) | 2 (2.7) | 6 (5.4) | .483 |
| Good | 161 (87) | 63 (86.3) | 98 (87.5) | .826 |
| Intermediate | 12 (6.5) | 5 (6.8) | 7 (6.3) | .98 |
| Poor | 4 (2.2) | 3 (4.1) | 1 (0.9) | .302 |
| Very poor | 0 (0) | 0 (0) | 0 (0) | — |
| NGS analysis, n (%) | ||||
| Epigenetic regulators | ||||
| DNMT3A | 29 (17.4) | 9 (12.7) | 20 (20.8) | .216 |
| IDH1 | 6 (3.6) | 6 (8.5) | 0 (0) | .005 |
| IDH2 | 5 (3) | 2 (2.8) | 3 (3.1) | .65 |
| KDM6A | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| TET2 | 49 (29.2) | 21 (29.6) | 28 (28.6) | .87 |
| Chromatin regulators | ||||
| ASXL1 | 23 (13.7) | 9 (12.7) | 14 (14.6) | .822 |
| EZH2 | 1 (0.6) | 0 (0) | 1 (1) | .88 |
| Spliceosome factors | ||||
| SRSF2 | 25 (14.7) | 14 (20) | 11 (11.2) | .132 |
| SF3B1 | 70 (41.2) | 4 (5.6) | 66 (67.4) | <.001 |
| U2AF1 | 14 (8.2) | 8 (11.1) | 6 (6.1) | .266 |
| ZRSR2 | 11 (6.5) | 10 (14.1) | 1 (1) | .001 |
| Cell signaling | ||||
| CBL | 5 (3) | 1 (1.4) | 4 (4.2) | .396 |
| CSF3R | 8 (4.8) | 2 (2.8) | 6 (6.3) | .469 |
| JAK2 | 5 (3) | 3 (4.2) | 2 (2) | .652 |
| KIT | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| KRAS | 3 (1.8) | 2 (2.8) | 1 (1) | .575 |
| MPL | 2 (1.2) | 1 (1.4) | 1 (1) | .46 |
| NRAS | 2 (1.2) | 2 (2.8) | 0 (0) | .175 |
| SH2B3 | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| WT1 | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| Tumor suppressors | ||||
| ATM | 5 (3) | 5 (7) | 0 (0) | .013 |
| PTEN | 1 (0.6) | 1 (1.4) | 0 (0) | .418 |
| TP53 | 6 (3.5) | 4 (5.6) | 2 (2) | .240 |
| Others | ||||
| BCOR | 5 (3) | 4 (5.6) | 1 (1) | .164 |
| CEBPA | 5 (3) | 0 (0) | 5 (5.2) | .073 |
| CHEK2 | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| ETV6 | 1 (0.6) | 0 (0) | 1 (1) | .912 |
| ETNK1 | 1 (0.6) | 0 (0) | 1 (1) | .987 |
| PHF6 | 2 (1.2) | 2 (2.8) | 0 (0) | .175 |
| RAD21 | 1 (0.6) | 1 (1.4) | 0 (0) | .420 |
| RUNX1 | 2 (1.2) | 1 (1.4) | 1 (1) | .654 |
| SETBP1 | 5 (3) | 1 (1.4) | 4 (4) | .400 |
| STAG2 | 3 (1.8) | 3 (4.2) | 0 (0) | .072 |
| IPSS-R risk category; n (%)† | ||||
| Very low | 81 (43.3) | 32 (42.7) | 49 (43.8) | .879 |
| Low | 80 (42.7) | 33 (44) | 47 (42) | .880 |
| Intermediate | 26 (13.9) | 10 (13.3) | 16 (14.3) | .986 |
| High | 0 (0) | 0 (0) | 0 (0) | — |
| Very high | 0 (0) | 0 (0) | 0 (0) | — |
| Treatment type, n (%) | ||||
| None | 87 (47.5) | 58 (77.3) | 29 (26.9) | <.001 |
| Erythropoietin stimulators | 47 (25.7) | 8 (10.7) | 39 (34.8) | <.001 |
| Immune suppression | 13 (7.1) | 2 (2.6) | 11 (10.2) | .077 |
| Hypomethylating agent | 27 (14.8) | 7 (9.3) | 20 (18.5) | .094 |
| Bone marrow transplant | 9 (4.9) | 0 | 9 (8.3) | .011 |
| Clinical course | ||||
| Disease progression, n (%) | 22 (11.8) | 13 (17.3) | 9 (8) | .067 |
| To MDS/chronic myeloid neoplasm | 11 (50) | 10 (76.9) | 1 (11.1) | .008 |
| To AML | 11 (50) | 3 (23.1) | 8 (88.9) | |
| Alive, n (%) | 120 (64.2) | 60 (80) | 60 (53.6) | <.001 |
| Follow-up, median (range, mo) | 32 (0.1-238) | 17 (2-125) | 54 (0.1-238)‡ | <.001 |
HGB, hemoglobin; IPSS-R, International prognostic scoring system revised; MCV, mean corpuscular volume; PLT, platelets; —, lower-risk myelodysplastic syndromes.
*
Transfusion dependency defined by requirement of at least 1 unit of red cell or platelet transfusion once every 4 weeks for more than 2 consecutive 4-week periods. Low burden defined as 3 to 7 units in a 16-week period; high burden defined as 8+ units in a 16-week period.12
†
Although IPSS-R was designed for MDS, we also applied it to CCUS patients.
‡
Median OS reached for MDS at 104 months was not reached for CCUS..