Characterization of CD34+ hematopoietic cells in systemic mastocytosis

Abstract Background: Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes. We investigated the potential association between the degree of involvement of BM hematopoiesis by the KIT D816V mutation and the distribution of different maturation-associated compartments…

Ruxolitinib for the treatment of patients with steroid-refractory GVHD

For patients with hematologic malignancies and disorders, allogeneic hematopoietic stem cell transplantation offers a potentially curative treatment option. Many patients develop graft-versus-host disease (GVHD), a serious complication and leading cause of nonrelapse mortality. Corticosteroids are the standard first-line treatment for GVHD; however, patients often become steroid-refractory or remain corticosteroid-dependent. New second-line treatment options are needed…

MPN heroes celebration

Do you know someone who is a Canadian MPN Champion? Nominations are open for the Canadian Myeloproliferative Neoplasm Network 2017 MPN Heroes Celebration Event in Atlanta, GA, on December 8, 2017. The Canadian MPN Network will recognize one MPN hero. They may be a patient who as inspired you, a caregiver, an organization or a…

Imaging features of myeloproliferative neoplasms

Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological disorders including polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukaemia (CML). These disorders show large overlap in genetic and clinical presentations, and can have many different imaging manifestations. Unusual thromboses, embolic events throughout the systemic or pulmonary vasculature, or osseous findings…

Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm

We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2V617F Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated with increased transforming potential. Aberrant signalling from the EGFRC329R receptor…

Proteomic analysis of JAK2V617F

In excess of 90% of patients with polycythaemia vera (PV) express a mutated form of Janus kinase 2 (JAK2), JAK2V617F. Such aberrant proteins offer great potential for the treatment of these diseases; however, inhibitors to JAK2 have had limited success in the clinic in terms of curing the disease. To understand the effects of this…

Pacritinib clinical hold lifted

CTI BioPharma Corp. (CTI BioPharma) announced (January 5th 2017) that the U.S. Food and Drug Administration (FDA) has lifted the full clinical hold (implemented in February 2016) on all clinical trials using the drug pacritinib. Pacritinib is a drug aimed at myelofibrosis but was placed on full clinical hold by the FDA due to safety…

A data-driven network model of primary myelofibrosis

MicroRNAs (miRNAs) are relevant in the pathogenesis of primary myelofibrosis (PMF) but our understanding is limited to specific target genes and the overall systemic scenario islacking. By both knowledge-based and ab initio approaches for comparative analysis of CD34+ cells of PMF patients and healthy controls, we identified the deregulated pathways involving miRNAs and genes and…

Durable response to lenalidomide in a patient with myelodysplastic syndrome

Loss of a section of the long arm of chromosome 5, as a sole cytogenetic abnormality, characterizes a rare type of myelodysplastic syndrome [del(5q) MDS] and the co-existence of the JAK2 V617F mutation occurs in a small subset of these cases. Patients with isolated del(5q) MDS have a relatively favorable prognosis, with transformation to acute…

The Basophil Activation Test

Background: Systemic mastocytosis (SM) patients are at a high risk for anaphylaxis, with Hymenoptera as the main culprit. A screening instrument to identify which patients are sensitized to Hymenoptera before they experience anaphylaxis would therefore be of great value. The basophil activation test (BAT) is proposed as a possible tool for diagnosing Hymenoptera venom-related allergy…