Brief Report MYELOID NEOPLASIA Presence of calreticulin mutations in JAK2-negative polycythemia vera
نویسندگان
چکیده
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 de Recherche 5247, Centre National de la Recherche Scientifique-Université de Montpellier, Montpellier, France; Département d’Hématologie, Pôle Biologie, Centre Hospitalier Universitaire de Nantes, Nantes, France; INSERM U892, Institut de Recherche Thérapeutique, Nantes, France; INSERM U866, Université de Bourgogne, Dijon, France; and Centre de Ressources Biologiques Ferdinand Cabanne, Dijon, France
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 کاملA novel assay to detect calreticulin mutations in myeloproliferative neoplasms
The myeloproliferative neoplasms are chronic myeloid cancers divided in Philadelphia positive (Ph+), chronic myeloid leukemia, or negative: polycythemia vera (PV) essential thrombocythemia (ET), and primary myelofibrosis (PMF). Most Ph negative cases have an activating JAK2 or MPL mutation. Recently, somatic mutations in the calreticulin gene (CALR) were detected in 56-88% of JAK2/MPL-negative ...
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The Myeloproliferative Neoplasms (MPN) are classified as four major diseases: Chronic Myeloid Leukemia (CML), Polycythemia Vera (PV), Primary Myelofibrosis (PMF) and Essential Thrombocythemia (ET) [1]. The translocation t(9;22)(q34;q11) produces the Philadelphia chromosome and causes the BCR-ABL1 transcript; this alteration is commonly found in CML [1]. In 2008 the World Health Organization (WH...
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Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...
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BACKGROUND Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics. METHODS A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutatio...
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