Myeloproliferative neoplasms

Disorder Diagnostic Features Mutation
Chronic myelogenous leukemia Constitutional symptoms (e.g., fatigue, weight loss, excessive sweating), splenomegaly & leukocytosis with marked left shift (e.g., myelocytes, metamyelocytes, band forms) Philadelphia chromosome t(9:22), BCR-ABL fusion protein
Essential thrombocytosis Hemorrhagic & thrombotic symptoms (e.g., easy bruising, microangiopathic occlusion), thrombocytosis & megakaryocytic hyperplasia JAK2
Polycythemia vera Pruritus, erythromelalgia, splenomegaly, thrombotic complications, erythrocytosis & thrombocytosis JAK2
Primary myelofibrosis Severe fatigue, splenomegaly (often causing early satiety/abdominal discomfort), hepatomegaly, anemia & bone marrow fibrosis JAK2