Korean J Med > Volume 90(4); 2016 > Article |
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Criteria | Polycythemia veraa (PV) | Essential thrombocythemiab (ET) | Primary myelofibrosisc (PMF) | |||
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Major | 1. | Hemoglobin > 18.5 g/dL in men, 16.5 g/dL in women or other evidence of increased red cell volumed | 1. | Sustained platelet count ≥ 450 × 109/L | 1. | Megakaryocyte proliferation and atypia, accompanied by either reticulin and/or collagen fibrosis, or in the absence of reticulin fibrosis, the megakaryocyte changes must be accompanied by an increased marrow cellularity, granulocytic proliferation and often decreased erythropoiesis |
2. | Presence of JAK2 V617F or similar mutation such as JAK2 exon 12 mutation | 2. | Proliferation of megakaryocytes with enlarged, mature morphology | |||
3. | Not meeting WHO criteria for PV, PMF, CML, MDS or other myeloid neoplasm | 2. | Not meeting WHO criteria for PV, CML, MDS, or other myeloid neoplasms | |||
4. | Demonstration of JAK2 V617F or other clonal marker, or no evidence for reactive thrombocytosis | 3. | Demonstration of JAK2 V617F or other clonal marker or no evidence of reactive bone marrow fibrosis | |||
Minor | 1. | Bone marrow proliferation with panmyelosis | 1. | Leukoerythroblastosis | ||
2. | Subnormal serum EPO level | 2. | Increase in serum LDH level | |||
3. | Endogenous erythroid colony formation in vitro | 3. | Anemia | |||
4. | Splenomegaly |
WHO, World Health Organization; CML, chronic myelogenous leukemia; MDS, myelodysplastic syndrome; EPO, erythropoietin; LDH, lactate dehydrogenase.
a Diagnosis of PV requires the presence of both major criteria and 1 minor criterion or the presence of the first major criterion together with 2 minor criteria.
d Hemoglobin or hematocrit > 99th percentile of reference range for age, sex or altitude of residence or hemoglobin > 17 g/dL in men or > 15 g/dL in women if associated with a sustained increase of at least 2 g/dL from baseline that cannot be attributed to correction of iron deficiency or elevated red cell mass > 25% above mean normal predicted value.
Category | Test | Details |
---|---|---|
Primary | CBC, differential count | |
Blood cell morphology | ||
Serum LDH level | ||
Serum erythropoietin | ||
Bone marrow aspirate and biopsy ± clot section | ||
Cytochemistry | Reticulin/collagena | |
Cytogenetics analysis | ||
Fusion transcript (RT-PCR) | BCR-ABL1 | |
Gene mutation | JAK2 V617F mutation | |
Secondary | Immunohistochemistry (biopsy or clot section) | CD34, CD117, CD61, CD14, CD64, CD11c, CD2, CD25, tryptaseb |
FISH | BCR-ABL1, FIP1L1-PDGFRAc, PDGFRB break-apartc, FGFR1c, +1q, +8, +9, del (13q), del (20q), -7/del (7q)d | |
Fusion transcript (RT-PCR) | FGFR1 rearrangementsc | |
Gene mutation | PTPN11e, NRASe, KRASe, NF1e, CBLe, KIT D816 mutationb, JAK2 exon 12 mutationf, MPL W515K/L mutationg, CALR exon 9 mutationg | |
Hemoglobin Fe | ||
Erythroid colony formation assayh | ||
GM-CSF hypersensitivity assayh |
CBC, complete blood count; LDH, lactate dehydrogenase; RT-PCR, reverse transcriptase polymerase chain reaction; FISH, fluorescence in situ hybridization; GM-CSF, granulocyte-macrophage colony-stimulating factor.
c For evaluation of patients with suspected chronic myelomonocytic leukemia, chronic eosinophilic leukemia, or atypical chronic myeloid leukemia, BCR-ABL1 negative.