9950/3 Polycythemia vera


Synonyms

Polycythemia rubra vera
Proliferative polycythemia
Chronic erythremia

Definitions

Tumours of haematopoietic and lymphoid tissues
ICD-O-3 topography code: C42 and C77
ICD10: D45
           

/span>olycythaemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by increased red blood cell production independent of the mechanisms that normally regulate erythropoiesis. Virtually all patients carry the somatic gain-of-function mutation of the Janus 2 kinase gene, JAK2 V617F or another functionally similar JAK2 mutation that results in proliferation not only of the erythroid lineage but of the granulocytes and megakaryocytes as well, i.e. ?panmyelosis?. Three phases of PV may be recognized:
1. A prodromal, pre-?polycythaemic phase characterized by borderline to only mild erythrocytosis;
2. An overt polycythaemic phase, associated with a significantly increased red cell mass; and
3. A ?spent? or post-?polycythaemic myelofibrosis phase (post-PV MF) in which cytopenias, including anaemia, are associated with ineffective haemato?poiesis, bone marrow (BM) fibrosis, extra?medullary haematopoiesis (EMH), and hypersplenism.

The natural progression of PV also includes a low incidence of evolution to a myelodysplastic/pre-leukaemic phase and/or to acute leukaemia (AML). All causes of secondary erythrocytosis, inheritable polycythaemia and other MPN must be excluded. The diagnosis requires integration of clinical, laboratory and BM histological features1
 
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (Eds.)
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
4th Edition
International Agency for Research on Cancer: Lyon 2008



as outlined in Table 2.02.

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