JAK2 mutations to the fore in hereditary thrombocythemia
نویسندگان
چکیده
منابع مشابه
JAK2 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 کاملCytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia
BACKGROUND The detection of molecular and cytogenetic alterations is important for the diagnosis, prognosis and classification of myeloproliferative neoplasms. OBJECTIVES THE AIM OF THIS STUDY WAS TO DETECT THE FOLLOWING MUTATIONS: JAK2 V617F, JAK2 exon 12 and MPL W515K/L, besides chromosomal abnormalities. Furthermore, molecular and cytogenetic alterations were correlated with the leukocyte ...
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 کاملAnalysis 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 ...
متن کاملDifferences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations
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., Tomonor...
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ژورنال
عنوان ژورنال: JAK-STAT
سال: 2014
ISSN: 2162-3996
DOI: 10.4161/21623988.2014.957618