Essential thrombocythemia is an acquired myeloproliferative disorder characterized by the proliferation of megakaryocytes in bone marrow, leading to a persistent increase in the number of circulating platelets and thus increasing the risk for thrombotic and hemorrhagic events. The disease features leukocytosis, splenomegaly, vascular occlusive events, hemorrhages and vasomotor disorders. The in...

Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously. (Pediatr Gastroentero...

Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative/myelodysplastic disorder associated with mutations in the Ras-Raf-MEK-ERK-signaling pathway. B-Raf plays a central role in this pathway. In 65 screened JMML patients we identified no BRAF mutations and we conclude that this gene is unlikely to play a role in the pathogenesis of JMML.

Chronic myeloid leukaemia (CML) is a malignant myeloproliferative disorder of haemopoietic stem cells, giving rise to abnormally elevated numbers of myeloid cells in peripheral blood and myeloid hyperplasia in bone marrow. Uncontrolled production of myeloid precursors results in increased levels of maturing granulocytes, mainly neutrophils but also eosinophils and basophils. Elevated numbers of...