Table 1. Spectrum of hematological disorders associated with isolated del(5q) and information on their JAK2V617F mutational status and subsequent disease transformation.
| Diagnosis | JAK2V617F negative (n=142) | JAK2V617F positive (n=16) | JAK2V617F unknown (n=32) | Total (n=190) (%) | Subsequent disease transformation (n) |
|---|---|---|---|---|---|
| WHO-defined ‘MDS with isolated del(5q)' | 78 | 5 | 5 | 88 (46) | AML (5) RAEB-1 (1) CMML (1) |
| RAEB-1 | 10 | 1 | 2 | 13 (7) | AML (1) |
| RAEB-2 | 11 | 1 | 3 | 15 (8) | AML (4) |
| MDS-U | 0 | 0 | 2 | 2 (1) | |
| CMML | 2 | 0 | 2 | 4 (2) | |
| RARS-T | 0 | 1 | 0 | 1 (0.5) | |
| MDS/MPN overlap | 1 | 0 | 1 | 2 (1) | |
| PV | 0 | 5 | 2 | 7 (4) | Post-PV MF (3) |
| ET | 0 | 1 | 1 | 2 (1) | |
| PMF | 2 | 1 | 2 | 5 (3) | AML (1) |
| MPN-U | 2 | 1 | 1 | 4 (2) | |
| Systemic mastocytosis | 1 | 0 | 0 | 1 (0.5) | |
| AML | 16 | 0 | 6 | 22 (11) | NA |
| Othersa | 18 | 0 | 5 | 23 (12) |
Abbreviations: AML, acute myeloid leukemia; CMML, chronic myelomonocytic leukemia; ET, essential thrombocytosis; JAK2, janus kinase 2; MDS, myelodysplastic syndrome; MDS-U, MDS unclassifiable; MPN, myeloproliferative neoplasm; MPN-U, MPN unclassifiable; NA, not applicable; PMF, primary myelofibrosis; PV, polycythemia vera; RAEB, refractory anemia with excess blasts; RARS-T, refractory anemia with ringed sideroblasts with thrombocytosis; WHO, world health organization.
a
Others include patients with plasma cell dyscrasias and lymphoproliferative disorders that were noted to have an isolated del 5(q) on cytogenetics, with no overt features of myelodysplasia based on bone marrow morphology.