Somatic mutations of calreticulin in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms
نویسندگان
چکیده
منابع مشابه
Somatic mutations of calreticulin in myeloproliferative neoplasms.
BACKGROUND Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients. METHODS We performed whole-exome sequencing to ...
متن کاملSomatic mutations of calreticulin in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.
According to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, myeloproliferative neoplasms (MPN) include chronic myeloid leukemia and the so-called Philadelphia-negative myeloproliferative neoplasms, i.e. essential thrombocythemia, polycythemia vera and primary myelofibrosis. Myeloproliferative features are also observed in a group of disorders...
متن کاملCalreticulin Mutations in Myeloproliferative Neoplasms
With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph(-)) myeloproliferative neoplasms (MPNs) in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations...
متن کاملCalreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
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...
متن کاملCalreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods
Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. F...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2014
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2014.113944