Genetic lesions disrupting calreticulin 3′‐untranslated region in JAK2 mutation‐negative polycythemia vera
نویسندگان
چکیده
منابع مشابه
Presence of calreticulin mutations in JAK2-negative polycythemia vera.
Calreticulin (CALR) mutations have been reported in Janus kinase 2 (JAK2)- and myeloproliferative leukemia (MPL)-negative essential thrombocythemia and primary myelofibrosis. In contrast, no CALR mutations have ever been reported in the context of polycythemia vera (PV). Here, we describe 2 JAK2(V617F)-JAK2(exon12)-negative PV patients who presented with a CALR mutation in peripheral granulocyt...
متن کاملBrief Report MYELOID NEOPLASIA Presence of calreticulin mutations in JAK2-negative polycythemia vera
Département d’Hématologie Biologique, Pôle Laboratoires, Centre Hospitalier Universitaire de Nancy, Nancy, France; INSERM U954, Université de Lorraine, Nancy, France; Département d’Hématologie Biologique, Pôle Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France; Département de Cytologie Clinique, Pôle Biologie, Centre Hospitalier Universitaire de Nı̂mes, Nı̂mes, France; Unité Mixte...
متن کاملJAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.
JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.
متن کاملIdentification of an acquired JAK2 mutation in polycythemia vera.
Polycythemia vera (PV) is a human clonal hematological disorder. The molecular etiology of the disease has not been identified. PV hematopoietic progenitor cells exhibit hypersensitivity to growth factors and cytokines, suggesting possible abnormalities in protein-tyrosine kinases and phosphatases. By sequencing the entire coding regions of cDNAs of candidate enzymes, we identified a G:C--> T:A...
متن کاملJAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched f...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2020
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.25911