A syndrome of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia/malignancy associated with t(8;13)(p11;q11): Description of a distinctive climicopathologic entity. Simultaneous occurrence of a T-cell lymphoma and chronic myeloid leukemia with an unusual karyotype. translocation breakpoints associated with an atypical myeloproliferative disorder: Evidence for three discreet loci invo...

Budd-Chiari syndrome (BCS) is a rare clinicopathological condition characterized by occlusion of the major hepatic veins with or without membranous obstruction (MOVC)of the inferior vena cava (IVC) at its hepatic portion. Ascites, hepatomegaly and upper abdominal pain constitute the classical triad of symptoms, and the disease usually progresses to congenital liver cirrhosis and portal hyperten...

We present a woman (age: 57 years) with an excessive bleeding episode under acetylsalicylic acid after bone marrow puncture due to an acquired von Willebrand syndrome (avWS) in the context of a myeloproliferative disorder. The laboratory features showed a high platelet concentration and a qualitative defect of von Willebrand factor (vWF) with a low normal vWF ristocetin cofactor activity, a nor...

This article reports the molecular diagnosis findings regarding chronic myeloproliferative neoplasms made in a Molecular Biology Laboratory over a seven years’ experience (between 2009 and 2015). Ritus Biotec ltd is an ELN (European Leukemia Net) certified diagnostic laboratory for quantification of BCR-ABL. 1373 patients were subjected to Jak2 V617F testing in this time frame. The patients wer...

The Jak-Stat-Socs pathway is an important component of cytokine receptor signaling. Not surprisingly, perturbation of this pathway is implicated in diseases of hematopoietic and immune origin, including leukemia, lymphoma and immune deficiencies. This review examines the role of a key component of this pathway, Stat5. This has been shown to be activated in a variety of leukemias and myeloprolif...

BACKGROUND Infants with Down syndrome are at increased risk for hematologic abnormalities, including leukemoid reaction, transient myeloproliferative disorder, and congenital leukemia. The differential diagnosis of a vesiculopustular eruption in an infant with Down syndrome and these hematologic abnormalities is broad and includes benign, self-limited disorders as well as life-threatening infec...

Elevated leukocyte cell numbers (leukocytosis), and monocytes in particular, promote atherosclerosis; however, how they become increased is poorly understood. Mice deficient in the adenosine triphosphate-binding cassette (ABC) transporters ABCA1 and ABCG1, which promote cholesterol efflux from macrophages and suppress atherosclerosis in hypercholesterolemic mice, displayed leukocytosis, a trans...

Venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. Splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproli...

Laboratory detection of spontaneous growth of colony-forming unit-megacaryocytes (CFU-MK), allowing us to distinguish essential thrombocythemia (ET) from reactive thrombocytosis, is therefore useful for the diagnostic of this myeloproliferative disorder. Whether CFU-MK assays allow us to discriminate at least partly between ET and other myeloproliferative disorders such as polycythemia vera (PV...

We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familial cases, carried deletions or duplications of exon 12 in circulating granulocytes but not in T lymphocytes. Two of the 8 mutations detected were novel, and the most frequent ones were N542-E543del and...