WHO diagnosis and results of JAK2 V617F mutation analysis in patients and controls
. | . | Positive for JAK2 mutation . | . | |
|---|---|---|---|---|
| WHO diagnosis by disease category . | N . | N . | % . | |
| MDS | ||||
| Refractory anemia/refractory anemia with ringed sideroblasts | 13 | 0 | 0 | |
| Refractory cytopenia with multilineage dysplasia/refractory cytopenia with multilineage dysplasia and ringed sideroblasts | 16 | 0 | 0 | |
| Refractory anemia with excess blasts 1/2 | 25 | 1 | 4 | |
| Myelodysplastic syndrome with isolated del(5q) | 4 | 0 | 0 | |
| Myelodysplastic syndrome-unclassifiable | 7 | 0 | 0 | |
| MDS/MPD | ||||
| Chronic myelomonocytic leukemia-1/2 | 22 | 2 | 9 | |
| Myelodysplastic/myeloproliferative disease-unclassifiable* | 26 | 3 | 12 | |
| Refractory anemia with ringed sideroblasts with thrombocytosis* | 9 | 6 | 67 | |
| Other | ||||
| Secondary AML† | 24 | 1 | 4 | |
| Hematologic controls | ||||
| Chronic myelogenous leukemia‡ | 21 | 0 | 0 | |
| Polycythemia vera | 40 | 36 | 90 | |
| Chronic idiopathic myelofibrosis | 33 | 18 | 55 | |
| Essential thrombocythemia | 30 | 17 | 57 | |
. | . | Positive for JAK2 mutation . | . | |
|---|---|---|---|---|
| WHO diagnosis by disease category . | N . | N . | % . | |
| MDS | ||||
| Refractory anemia/refractory anemia with ringed sideroblasts | 13 | 0 | 0 | |
| Refractory cytopenia with multilineage dysplasia/refractory cytopenia with multilineage dysplasia and ringed sideroblasts | 16 | 0 | 0 | |
| Refractory anemia with excess blasts 1/2 | 25 | 1 | 4 | |
| Myelodysplastic syndrome with isolated del(5q) | 4 | 0 | 0 | |
| Myelodysplastic syndrome-unclassifiable | 7 | 0 | 0 | |
| MDS/MPD | ||||
| Chronic myelomonocytic leukemia-1/2 | 22 | 2 | 9 | |
| Myelodysplastic/myeloproliferative disease-unclassifiable* | 26 | 3 | 12 | |
| Refractory anemia with ringed sideroblasts with thrombocytosis* | 9 | 6 | 67 | |
| Other | ||||
| Secondary AML† | 24 | 1 | 4 | |
| Hematologic controls | ||||
| Chronic myelogenous leukemia‡ | 21 | 0 | 0 | |
| Polycythemia vera | 40 | 36 | 90 | |
| Chronic idiopathic myelofibrosis | 33 | 18 | 55 | |
| Essential thrombocythemia | 30 | 17 | 57 | |
MDS indicates myelodysplastic syndrome; MDS/MPD, myelodysplastic/myeloproliferative disease; and AML, acute myeloid leukemia.
A total of 35 patients with the diagnosis of MDS/MPD-U were studied; 26 of them were not otherwise further classified, while 9 fulfilled the criteria for RARS-T provisional entity.
Secondary AML includes AML that transformed from MDS, but not therapy-related MDS.
Chronic myelogenous leukemia includes one patient with atypical chronic myeloid leukemia.