Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)

The clinical criteria for the diagnosis of essential thrombocythemia (ET) according to the polycythemia vera study group (PVSG) do not distinguish between ET and thrombocythemia associated with early stage PV and prefibrotic chronic idiopathic myelofibrosis (CIMF). The clinical criteria of the PVSG...

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Bibliographic Details
Published in:Pathologie biologie (Paris) 2007-03, Vol.55 (2), p.92-104
Main Authors: Michiels, J.J., Bernema, Z., Van Bockstaele, D., De Raeve, H., Schroyens, W.
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Biological and medical sciences
Biomarkers
Biopsie médulllaire
Blood Cell Count
Bone Marrow - pathology
Cell Lineage
Colony-Forming Units Assay
Disease Progression
Endogenous erythroid colony assay
Enzyme-Linked Immunosorbent Assay
Erythrocyte Volume
Erythroid Precursor Cells - pathology
Erythropoietin
Erythropoietin - blood
Essential thrombocythemia
General aspects
GPI-Linked Proteins
Humans
Investigative techniques, diagnostic techniques (general aspects)
Isoantigens - blood
JAK2
JAK2 V617F mutation
Janus Kinase 2 - genetics
Medical sciences
Membrane Glycoproteins - blood
Mutation, Missense
Myelofibrosis
Myeloid metaplasia
Myeloproliferative disorders
Point Mutation
Polycythemia vera
Polycythemia Vera - blood
Polycythemia Vera - diagnosis
Polycythemia Vera - genetics
Polycythemia Vera - pathology
Polyglobulie
Polymerase Chain Reaction
Predictive Value of Tests
Primary Myelofibrosis - blood
Primary Myelofibrosis - diagnosis
Primary Myelofibrosis - genetics
Primary Myelofibrosis - pathology
Receptors, Cell Surface - blood
Sensitivity and Specificity
Thrombocythemia, Essential - blood
Thrombocythemia, Essential - diagnosis
Thrombocythemia, Essential - genetics
Thrombocythemia, Essential - pathology
Thrombocytémie
World Health Organization
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Summary:The clinical criteria for the diagnosis of essential thrombocythemia (ET) according to the polycythemia vera study group (PVSG) do not distinguish between ET and thrombocythemia associated with early stage PV and prefibrotic chronic idiopathic myelofibrosis (CIMF). The clinical criteria of the PVSG for the diagnosis of polycythemia vera (PV) only detects advanced stage of PV with increased red cell mass. The bone marrow criteria of the World Health Organization (WHO) are defined by pathologists to explicitly define the pathological criteria for the diagnostic differentiation of ET, PV, and prefibrotic and fibrotic CIMF. As the clinical PVSG and the pathological WHO criteria show significant shortcomings, an updated set of European Clinical and Pathological (ECP) criteria combined with currently available biological and molecular markers are proposed to much better distinct true ET from early PV mimicking ET, to distinguish ET from thrombocythemia associated with prefibrotic CIMF, and to define the various clinical and pathological stages of PV and CIMF that has important therapeutic and prognostic implications. Comparing the finding of clustered giant abnormal megakaryocytes in a representative bone marrow as a diagnostic clue to MPD, the sensitivity for the diagnosis of MPD associated with splanchnic vein thrombosis was 63% for increased red cell mass, 52% for low serum EPO level, 72% for EEC, and 74% for splenomegaly indicating the superiority of bone marrow histopathology to detect masked early and overt MPD in this setting. The majority of PV and about half of the ET patients have spontaneous EEC, low serum EPO levels and PRV-1 over-expression and are JAK2 V617F positive. The positive predictive value for the diagnosis of PV of spontaneous growth of endogenous erythroid colonies (EEC) of peripheral blood (PB) and bone marrow (BM) cells is about 80–85% when either PB or BM EEC assays, and up to 94% when BM and PB EEC assays were performed. The diagnostic impact of low serum EPO levels (ELISA assay) in a large study of 186 patients below the normal range (< 3.3 IU/l) had a sensitivity specificity and positive predictive value of 87%, 97% and 97.8%, respectively, for the diagnosis of PV. There is a significant overlap of serum EPO levels in PV versus control and controls versus SE. The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positi
ISSN:0369-8114
1768-3114
DOI:10.1016/j.patbio.2006.06.002