Table 1 Patient characteristics with CCUS, the treatment regimens and outcomes.
Case no. | Age (years) | Sex | Clinical features | 1st NGS-mutated gene (VAF%) | 2nd NGS, if available (VAF%) | 3rd NGS, if available (VAF%) | Treatment | Response | Follow-up duration (M) | Outcomes |
---|---|---|---|---|---|---|---|---|---|---|
1 | 60 | M | Anemia and thrombocytopenia; Sweet syndrome | TET2 (44%); TET2 (41%) | — | — | HMA (DAC 5d); steroid | SI | 6.7 | Alive |
2 | 71 | M | Neutropenia; a history of chronic lymphocytic leukemia | IDH1 (33%); SRSF2 (39%) | — | — | HMA (DAC 3d) | HI | 1.4 | Alive |
3 | 74 | M | Neutropenia; acquired periodic fever syndrome | IDH2 (37%); ZRSR2 (74%) | — | — | HMA (DAC 3d) | SI | 2.4 | Alive |
4 | 71 | M | Anemia and thrombocytopenia; hypogammaglobinemia; systemic inflammatory response syndrome | DNMT3A (47%) | DNMT3A (44%) | — | HMA (DAC 3d) | HI | 12.2 | Alive |
5 | 78 | M | Pancytopenia | U2AF1 (22%) | — | — | Steroid; IVIG; ESA | Stable | 53.3 | Alive |
6 | 70 | M | Pancytopenia; a history of bladder cancer | TP53 (5%) | — | — | HMA (DAC 5d) | HI | 9.6 | Alive |
7 | 73 | M | Anemia | SF3B1 (34%); TET2 (8%) | — | SF3B1 (32%); IDH1 (48%) | Testosterone; ESA | MDS | 87.8 | Alive |
8 | 78 | M | Pancytopenia | SF3B1 (missing) | — | — | Vitamin B12; iron | MDS | 12.1 | Alive |
9 | 67 | F | Neutropenia and thrombocytopenia | RUNX1 (missing) | BCOR (27%); KRAS (23%); U2AF1 (24%) | KRAS (38.9%); U2AF1 (45.2%) | TPA | Initial HI, then AML | 15.5 | Alive |
10 | 78 | M | Anemia and thrombocytopenia; poly-inflammatory syndrome characterized by vasculitis; bronchogenic carcinoma | KDM6A (8%); TET2 (22%); U2AF1 (18%); ZRSR2 (92%) | — | — | HMA (DAC 3d) | SI | 2.3 | Alive |
11 | 64 | M | Neutropenia and thrombocytopenia | CUL3 (25.7%); SRSF2 (43.5%); TET2 (4.5%); TET2 (1.5%) | SRSF2 (43%); TET2 (11%) | — | Rituximab | Stable | 1.7 | Alive |
12 | 81 | M | Neutropenia and thrombocytopenia | IDH1 (12%); SRSF2 (15%) | — | — | Steroid; GCSF | HI | 6.6 | Alive |
13 | 88 | M | Anemia | ZRSR2 (34%) | — | — | Testosterone | Stable | 48.3 | Alive |
14 | 74 | M | Pancytopenia | DDX41 (5%); DNMT3A (7%) | — | — | GCSF | Stable | 3.5 | Alive |
15 | 24 | M | Neutropenia and thrombocytopenia | ASXL1 (32%) | — | — | GCSF; ESA | Initial HI, then progressed with worsening cytopenia (s) | 18.5 | Dead |
16 | 76 | M | Anemia and thrombocytopenia | SRSF2 (32%); TP53 (22%) | TP53 (missing) | — | ESA | Stable | 18.9 | Alive |
17 | 69 | F | Pancytopenia; history of lung cancer | JAK2 (2%); TP53 (16%) | JAK2 (10%); TP53 (13%); U2AF1 (6%) | — | Steroid; cyclosporine; ESA | Worsening cytopenia (s) | 15.4 | Dead |
18 | 78 | M | Pancytopenia | U2AF1 (25%) | ASXL1 (9%); U2AF1 (18%) | — | ESA; testosterone | Stable | 10.7 | Alive |
19 | 69 | F | Anemia and neutropenia | IDH1 (38%); SRSF2 (43%); TP53 (42%) | — | — | ESA | SI | 22 | Alive |
20 | 75 | M | Pancytopenia | BCOR (19%); U2AF1 (9%) | — | — | Cyclosporine | Worsening cytopenia (s) | 10.2 | Dead |
21 | 33 | M | Pancytopenia; recurrent skin, soft tissue infection, diverticulitis; myopericarditis; history of congenital neutropenia | SETBP1 (50%)b | — | — | Allogeneic stem cell transplantation | HI | 32.6 | Alive |
22 | 58 | F | Pancytopenia; irritable bowel syndrome; fibromyalgia; and inflammatory purpura without vasculitis | ASXL1 (25%) | — | ASXL1 (27%); SETBP1 (12%); SETBP1 (9%) | HMA (DAC 3d) | Initial HI, then MDS | 26.3 | Alive |
23 | 77 | M | Anemia and neutropenia; | ASXL1 (missing); U2AF1 (missing) | — | — | HMA (AZAa) | MDS | 9 | Alive |
24 | 70 | M | Pancytopenia; AML | BCOR (19%); DNMT3A (19%); PHF6 (15%); RUNX1 (9%); SF3B1 (12%); STAG2 (22%); TET2 (9%) | BCOR (64%); DNMT3A (37%); FLT3 (39%); PHF6 (9%); RUNX1 (32%); SF3B1 (36%); STAG2 (68%); TET2 (32%) | — | HMA (AZA 3d) | AML | 4.7 | Alive |