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Pathology - Essential thrombocythemia
Definition: A myeloproliferative neoplasm mostly affecting the megakaryocytic lineage.
Epidemiology: Estimated incidence ranges from 0.5 to 2.5 cases per 100,000 individuals annually. • The majority of occurrences occur in adults aged 50 to 60. • There is no gender preference.
Aetiology: Unknown. Genetics • No established molecular genetic or cytogenetic abnormalities have been identified.
Presentation • Approximately fifty percent of patients are diagnosed incidentally due to a significantly elevated platelet count identified in a complete blood count. • The remaining patients exhibit symptoms associated with vascular occlusion or hemorrhage, including transient ischemic attacks, digital ischemia and gangrene, as well as major arterial and venous thrombosis. • Splenomegaly occurs in only a minority of patients. Complete blood count • Persistently high platelet count (> 450 × 10^9/L). The leukocyte and erythrocyte counts are typically within normal limits. The bone marrow has normal cellularity, although displays an elevated presence of huge and enormous megakaryocytes characterized by ample cytoplasm and severely lobated 'stag-horn' nuclei. There is no significant proliferation of erythroid or granulocytic lineages.
Prognosis: A rather indolent disease with a median survival of 10 to 15 years. • A minimal percentage of patients advance to bone marrow fibrosis or acute myeloid leukemia.
Definition: A myeloproliferative neoplasm mostly affecting the megakaryocytic lineage.
Epidemiology: Estimated incidence ranges from 0.5 to 2.5 cases per 100,000 individuals annually. • The majority of occurrences occur in adults aged 50 to 60. • There is no gender preference.
Aetiology: Unknown. Genetics • No established molecular genetic or cytogenetic abnormalities have been identified.
Presentation • Approximately fifty percent of patients are diagnosed incidentally due to a significantly elevated platelet count identified in a complete blood count. • The remaining patients exhibit symptoms associated with vascular occlusion or hemorrhage, including transient ischemic attacks, digital ischemia and gangrene, as well as major arterial and venous thrombosis. • Splenomegaly occurs in only a minority of patients. Complete blood count • Persistently high platelet count (> 450 × 10^9/L). The leukocyte and erythrocyte counts are typically within normal limits. The bone marrow has normal cellularity, although displays an elevated presence of huge and enormous megakaryocytes characterized by ample cytoplasm and severely lobated 'stag-horn' nuclei. There is no significant proliferation of erythroid or granulocytic lineages.
Prognosis: A rather indolent disease with a median survival of 10 to 15 years. • A minimal percentage of patients advance to bone marrow fibrosis or acute myeloid leukemia.
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