Table 2.
Clinical summary of STAT5B N642H mutant cases
| Case | Sex | Age (y) | Status (m) | wcc | plt | Hb | eos | Initial diagnosis | MG |
|---|---|---|---|---|---|---|---|---|---|
| E143 | M | 69 | D (107) | 16 | 280 | 100 | 1.5 | aCML | 2 |
| E228 | M | 65 | n/a | n/a | n/a | n/a | n/a | HES | 2 |
| E492 | F | 7 | D (13) | 30 | 343 | 147 | 11 | Myeloid sarcoma | 3 |
| E1237 | M | 89 | D (12) | 15 | 488 | 148 | 6 | MPN-U | 3 |
| E2323 | M | 70 | D (12) | 61 | 107 | 101 | 10 | CMML | 3 |
| E2335 | M | 63 | D (9) | 28 | 113 | 158 | 0.7 | MDS/MPN | 3 |
| E2594 | M | 58 | D (14) | 14 | 128 | 81 | 4 | MDS-SLD; eosinophilia at 3 years | 2 |
| E2810 | M | 81 | D (7) | 18 | 409 | 94 | 10 | MPN-U | 2 |
| E2935 | F | 10 | D (48) | 47 | 157 | 110 | 27 | HES | 1 |
| E3065 | F | 82 | D (28) | 25 | 150 | 100 | 2 | CMML + MM | 1 |
| E3321 | M | 86 | D (45) | 21 | n/a | 152 | 6 | HES | 2 |
| E4349 | M | 61 | D (12) | 15 | 16 | 132 | 5 | CMML | 3 |
| E5735 | M | 68 | D (31) | 12 | 106 | 111 | 5 | HES | 3 |
| E10926 | M | 70 | D (16) | 142 | 111 | 73 | 1.4 | SM-AHN | 2 |
| E11076 | M | 72 | A (68) | 21 | 556 | 149 | 6 | MDS/MPN-U | 2 |
| E11493 | M | 76 | D (23) | 42 | 275 | 92 | 19 | MDS/MPN-U | 3 |
| E11825 | F | 61 | A (61) | 9 | 438 | 108 | 1.2 | MDS/MPN-RS-T | 2a |
| E11837 | M | 72 | D (14) | 11 | 120 | 156 | 7 | MDS-MLD; eosinophilia at 3 years | 1 |
| E12398 | M | 77 | D (15) | 24 | 34 | 140 | 7 | HES | 3a |
| E12433 | F | 51 | A (35) | 19 | 151 | 90 | 3 | MDS/MPN-U | 2 |
| E12601 | F | 64 | D (14) | 28 | 267 | 116 | 10 | HES | 3 |
| E12614 | F | 15 | A (48) | 28 | 655 | 133 | 4 | CEL-NOS | 1a |
| E12885 | F | 75 | D (23) | 24 | 238 | 110 | 3 | MDS/MPN | 3a |
| E13191 | M | 83 | A (9) | 29 | 401 | 148 | 13 | HES | 3 |
| E13206 | M | 85 | D (4) | 39 | 229 | 142 | 20 | CEL-NOS | 3 |
| E13493 | M | 70 | D (9) | 17 | 195 | 65 | 6 | MDS/MPN-U | 3 |
| E13661 | M | 42 | A (60) | 12 | 267 | 125 | 0.5 | PV; eosinophilia at 25 years | 3 |
Sex: male (M) or female (F); Age in years (y) at presentation; Status: dead (D) or alive (A) at specified number of months (m) after presentation or first detection of eosinophilia (E2594, E11837, E13661); white cell count (wcc), platelets (plt) and eosinophils (eos) ×109/L at diagnosis or first detection of eosinophilia; haemoglobin (Hb) in g/L; diagnosis: atypical chronic myeloid leukemia (aCML), hypereosinophilic syndrome (HES), myeloproliferative neoplasm, unclassifiable (MPN-U); myelodysplastic/myeloproliferative neoplasm (MDS/MPN), myelodysplastic syndrome with single lineage dysplasia (MDS-SLD), chronic myelomonocytic leukemia (CMML), multiple myeloma (MM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), MDS/MPN, unclassifiable (MDS/MPN-U), MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), MDS with multilineage dysplasia (MDS-MLD), chronic eosinophilic leukemia, not otherwise specified (CEL-NOS), polycythemia vera (PV); molecular group (MG): 1 = no additional mutations; 2 = SF3B1 mutated; 3 = additional mutations but SF3B1 unmutated; not available (n/a)
aIndicates the 4 cases for whom STAT5B N642H was absent in cultured T-cells