Diagnostic criteria for polycythemia vera (PV) and post-PV myelofibrosis (post-PV MF)
| PV . | Post-PV MF . |
|---|---|
| Major criteria 1. Elevated hemoglobin concentration or elevated hematocrit or increased red blood cell mass* 2. Presence of JAK2 V617F or JAK2 exon 12 mutation† 3. Bone marrow biopsy showing age-adjusted hypercellularity with trilineage proliferation (panmyelosis), including prominent erythroid, granulocytic, and increase in pleomorphic, mature megakaryocytes without atypia Minor criterion • Subnormal serum erythropoietin level | Required criteria 1. Previous established diagnosis of PV 2. Bone marrow fibrosis of grade 2 or 3 Additional criteria 1. Anemia (ie, below the reference range given age, sex, and altitude considerations) or sustained loss of requirement of either phlebotomy (in the absence of cytoreductive therapy) or cytoreductive treatment for erythrocytosis 2. Leukoerythroblastosis 3. Increase in palpable splenomegaly of >5 cm from baseline or the development of a newly palpable splenomegaly 4. Development of any 2 (or all 3) of the following constitutional symptoms: >10% weight loss in 6 mo, night sweats, unexplained fever (>37.5°C) |
| The diagnosis of PV requires either all 3 major criteria or the first 2 major criteria plus the minor criterion‡ | The diagnosis of post-PV MF is established by all required criteria and at least 2 additional criteria |
| PV . | Post-PV MF . |
|---|---|
| Major criteria 1. Elevated hemoglobin concentration or elevated hematocrit or increased red blood cell mass* 2. Presence of JAK2 V617F or JAK2 exon 12 mutation† 3. Bone marrow biopsy showing age-adjusted hypercellularity with trilineage proliferation (panmyelosis), including prominent erythroid, granulocytic, and increase in pleomorphic, mature megakaryocytes without atypia Minor criterion • Subnormal serum erythropoietin level | Required criteria 1. Previous established diagnosis of PV 2. Bone marrow fibrosis of grade 2 or 3 Additional criteria 1. Anemia (ie, below the reference range given age, sex, and altitude considerations) or sustained loss of requirement of either phlebotomy (in the absence of cytoreductive therapy) or cytoreductive treatment for erythrocytosis 2. Leukoerythroblastosis 3. Increase in palpable splenomegaly of >5 cm from baseline or the development of a newly palpable splenomegaly 4. Development of any 2 (or all 3) of the following constitutional symptoms: >10% weight loss in 6 mo, night sweats, unexplained fever (>37.5°C) |
| The diagnosis of PV requires either all 3 major criteria or the first 2 major criteria plus the minor criterion‡ | The diagnosis of post-PV MF is established by all required criteria and at least 2 additional criteria |
Diagnostic thresholds: hemoglobin: > 16.5 g/dL in men and > 16.0 g/dL in women; hematocrit: > 49% in men and > 48% in women; red blood cell mass: > 25% above mean normal predicted value.
It is recommended to use highly sensitive assays for JAK2 V617F (sensitivity level < 1%); in negative cases, consider searching for noncanonical or atypical JAK2 mutations in exons 12 to 15.
A bone marrow biopsy may not be required in patients with sustained absolute erythrocytosis (hemoglobin concentrations of >18.5 g/dL in men or >16.5 g/dL in women and hematocrit values of >55.5% in men or >49.5% in women) and the presence of a JAK2 V617F or JAK2 exon 12 mutation.