1. Diagnostics
  2. Polycythemia Vera
  3. Essential Thrombocythemia
  4. Primary Myelofibrosis
  5. Congenital Erythrocytosis
  6. Hereditary Thrombocytosis

Polycythemia Vera

The World Health Organization (WHO) classification of myeloproliferative neoplasms (MPN) [1,2] was revised in 2008 and defines the diagnosis of Polycythemia vera (PV) according to the following algorithm:

A patient must meet either:

  • Both major criteria (Nr. 1 and Nr. 2) and one minor criterion
  • Major Criterion Nr. 1 and two minor criteria

Major Criteria:

  1. The patient must have one of the following:
    1. Hgb > 18.5 g/dL (men) or Hgb > 16.5 g/dL (women)
    2. Hgb > 17 g/dL (men) or Hgb > 15 g/dL if associate with a sustained increase of > 2 g/dL from baseline that cannot be attributed to a correction of iron deficiency.
    3. Hgb or hematocrit greater than the 99th percentile of reference range for age, sex, or altitude of residence.
    4. Red cell mass >25% above the mean normal predicted.
  2. Presence of the JAK2 V617F mutation or a similar mutation.

Minor Criteria:

  1. Bone marrow trilineage myeloproliferation
  2. Subnormal serum Erythropoietin (Epo) levels
  3. Growth of Endogeneous Erythroid Colonies (EECs)
  1. Swerdlow S, Campo E, Harris N. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IRAC Press. 2008:Lyon, France.
  2. Tefferi A, Thiele J, Vardiman JW. The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer. 2009;115(17):3842-3847.
  3. Visit also the FIM (French Intergroup MPD) website.
  4. Hussein et al. Clinical utility gene card for: familial polycythaemia vera European Journal of Human Genetics 2012, e1–e4; doi:10.1038/ejhg.2012.216