conclusions both the cases discussed in our study have inv(9) as the sole abnormality and are found to confer a relatively poor prognosis. case presentation we present the case of a chronic myeloid leukemia (cml) patient who showed intermittent relapse on treatment, with a rare appearance of clones with dual inversion (9) breakpoints [inv(9)(p22q34); inv(9)(p11q21)]. we also present the first r...

essential thrombocythemia is a rare myeloproliferative disorder in pediatrics. this myeloproliferative disorder is charactherized by thrombocytosis and hyperplasia of megakaryocytes in the bone marrow. other cell lines are not involved.jak2v617fmutations has been identified in approximately half the patients with this disorder. we describe a 12-year-old boy with essential throbocythemia. the pa...

Myeloproliferative Neoplasm (MPN) are a clonal disorder in hematopoietic stem cells (HSC). MPN is categorized to 8 subclasses, including chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocytopenia (ET), primary myelofibrosis (PMF), systematic mastositosis (SM), chronic eosinophilic leukemia (CEL), chronic neutrophilic leukemia (CNL), and unclassified myelofibrosis disorde...

myeloproliferative neoplasms (mpns) such as polycythemia vera, essential thrombocythemia, primary myelofibrosis and chronic myeloid leukemia have too similar and accurate way to differentiate their is study of genetic disorders in these patients. philadelphia chromosome is a sure way to definitively diagnose cml. recently, jak2v617f mutation introduced as a diagnostic marker for other myeloprol...

Spinal cord compression due to extramedullary hematopoiesis is a well-known complication in a number of hematological diseases. Most of the patients present with progressive paraparesis due to the slow expansion of the extramedullary hematopoietic tissue. The authors report a case of chronic myeloproliferative disorder with spinal extramedullary hematopoiesis presenting with acute paraplegia. C...

Two patients with cerebral venous thrombosis are described. In both patients laboratory findings suggested an underlying haematological disorder and bone marrow biopsy showed a myeloproliferative disorder. Both chronic cerebral venous thrombosis and early myeloproliferative disorders are difficult to diagnose. Their combined occurrence may be less rare than is frequently supposed.

essential thrombocythemia is a chronic myeloproliferative disorder characterized by a sustained proliferation of megakaryocytes, which leads to increased numbers of circulating platelets. hemorrhagic and/or thrombotic episodes are frequent, and thrombosis of both veins and arteries may develop. vessels in unusual sites may be involved, e.g., the hepatic veins, mesenteric veins, and the digital ...

We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T617N mutation energetically favors dimerization of the granulocyte colony-stimulating factor (G-CSF) receptor transmembrane domain, and thus, strongly promotes constitutive activation of the receptor and hypersensitivity to G-CSF for proliferation and differentiation, which ultimately leads to chr...

Essential thrombocythemia is a chronic myeloproliferative disorder characterized by a sustained proliferation of megakaryocytes, which leads to increased numbers of circulating platelets. Hemorrhagic and/or thrombotic episodes are frequent, and thrombosis of both veins and arteries may develop. Vessels in unusual sites may be involved, e.g., the hepatic veins, mesenteric veins, and the dig...