Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations
نویسندگان
چکیده
Yoko Kubuki, M.D., Kotaro Shide, M.D., Takuro Kameda, M.D., Takumi Yamaji, M.D., Masaaki Sekine, M.D., Ayako Kamiunten, M.D., Keiichi Akizuki, M.D., Haruko Shimoda, M.D., Yuki Tahira, M.D., Kenichi Nakamura, M.D., Hiroo Abe, M.D., Tadashi Miike, M.D., Hisayoshi Iwakiri, M.D., Yoshihiro Tahara, M.D., Mitsue Sueta, M.D., Kanna Hashimoto, M.D., Shojiro Yamamoto, M.D., Satoru Hasuike, M.D., Tomonori Hidaka, M.D., Kenji Nagata, M.D., Akira Kitanaka, M.D., and Kazuya Shimoda, M.D. Department of Transfusion and Cell Therapy, University of Miyazaki Hospital; Department of Gastroenterology and Hematology, Faculty of Medicine, University of Miyazaki; Oncology Unit, University of Miyazaki Hospital; Liver Disease Center, University of Miyazaki Hospital, Miyazaki, Japan
منابع مشابه
Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations.
The JAK2 V617F mutation, the thrombopoietin receptor MPL W515K/L mutation and calreticulin (CALR) mutations are mutually exclusive in essential thrombocythemia and support a novel molecular categorization of essential thrombocythemia. CALR mutations account for approximately 30% of cases of essential thrombocythemia. In a retrospective study, we examined the frequency of MPL and CALR mutations ...
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We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CA...
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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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Janus kinase 2 (JAK2) and calreticulin (CALR) constitute the two most frequent mutations in essential thrombocythemia (ET), and both are reported to be mutually exclusive. Hence, we examined a cohort of 123 myeloproliferative neoplasm (MPN) patients without BCR-ABL1 rearrangement and additional ET patients (n=96) for coexistence of JAK2 and CALR mutations. The frequency of CALR mutations was 20...
متن کاملJAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.
Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. We studied biologic and clinical features of essential thrombocythemia according to JAK2 or CALR mutation status and in relation to those of polycythemia vera. The mutant allele burden was lower in JAK2-mutated than in CALR-mutated essential thrombocythemia. Patients with...
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Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations. We studied CALR mutation status in familial cases of myeloproliferative neoplasm. In a cohort of 127 patients, CALR indels were identified in 6 of 55 (11%) subjects with ET and in 6 of 20 (30%) with PM...
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