JAK2 V617F negative essential thrombocythemia
نویسندگان
چکیده
منابع مشابه
JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia.
The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficient to produce a myeloproliferative phenotype in murine retroviral transplantation or transgenic models. However, several lines of evidence suggest that disease phenotype is influenced by the level of mutant JAK2 signaling, and we have therefore generated a conditional knock-in mouse in which a hu...
متن کاملJAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis
Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF to determine the prevalence, and clinical and laboratory correlations of CALR/JAK2/MPL mutations. Among 84 ET patients, CALR mutations were detected in 23 (27.4%) and were associated wit...
متن کاملJAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.
JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N...
متن کاملAssociation Between Soluble CD40L with Thrombosis Occurrence and JAK2 V617F Mutation in Essential Thrombocythemia
Thrombo-haemorrhagic events are the main cause of mortality in essential thrombocythemia (ET). The aim of this study was to measure soluble CD40 ligand (sCD40L) in the plasma of healthy individuals and in patients with an elevated platelet count and investigate the association of sCD40L with thrombosis in ET patients and their JAK2 V617F mutation. The plasma levels of sCD40L was measured in 75 ...
متن کاملFamilial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
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...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2013
ISSN: 0377-1237
DOI: 10.1016/j.mjafi.2012.09.006