نتایج جستجو برای: jak2 mutation
تعداد نتایج: 294733 فیلتر نتایج به سال:
Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case repo...
The discovery of the JAK2 V617F mutation ten years ago revolutionised the molecular diagnosis of the classical myeloproliferative neoplasms (MPN) of polycythaemia vera, essential thrombocythaemia and primary myelofibrosis with presence of this mutation now considered a major criteria for the diagnosis of these malignancies according to the World Health Organization classification of tumours. 1 ...
BACKGROUND Thrombotembolic complications are the leading cause of mortality in essential thrombocythemia (ET), but the definition of thrombotic risk remains far from clear. OBJECTIVES The aim of this study was to evaluate the prognostic markers for thrombosis to identify ET patients at risk. MATERIAL AND METHODS Forty-five consecutive patients with ET were studied. This group was divided in...
The JAK1/JAK2 inhibitor ruxolitinib produced significant reductions in splenomegaly and symptomatic burden and improved survival in patients with myelofibrosis (MF), irrespective of their JAK2 mutation status, in 2 phase III studies against placebo (COMFORT-I) and best available therapy (COMFORT-II). We performed a comprehensive mutation analysis to evaluate the impact of 14 MF-associated mutat...
which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Is RARS-T a new disease entity or a subtype of RARS or ET? TO THE EDITOR: A recent report of " JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myelo-proliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts wi...
The JAK2 mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD). We show that transplantation of JAK2-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocyt...
Myeloproliferative neoplasms transformed into AML usually have a poor prognosis. We report a case of essential thrombocythemia with myelofibrosis that transformed into acute promyelocytic leukemia (APL) with both the t(15;17) translocation as well as the JAK2 V617F mutation. Clinically, this case was notable for severe differentiation syndrome despite treatment with high-dose dexamethasone. Cyt...
BACKGROUND The non-receptor tyrosine kinase JAK2 is implicated in a group of myeloproliferative neoplasms including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. JAK2-selective inhibitors are currently being evaluated in clinical trials. Data from drug-resistant chronic myeloid leukemia patients demonstrate that treatment with a small-molecule inhibitor generates resi...
JAK2(V617F) is the predominant mutation in myeloproliferative neoplasms (MPN). Modeling MPN in a human context might be helpful for the screening of molecules targeting JAK2 and its intracellular signaling. We describe here the derivation of induced pluripotent stem (iPS) cell lines from 2 polycythemia vera patients carrying a heterozygous and a homozygous mutated JAK2(V617F), respectively. In ...
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