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題名 | Prevalence of MPL W515L/K Mutations in Taiwanese Patients with Philadelphia-negative Chronic Myeloproliferative Neoplasms=MPL W515L/K點突變在費城染色體陰性骨髓增生性腫瘤中盛行率的研究 |
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作者姓名(中文) | 呂健惠; 沈裕傑; 賴威智; 蔡玟蕙; 徐會棋; | 書刊名 | Journal of the Chinese Medical Association |
卷期 | 73:10 2010.10[民99.10] |
頁次 | 頁530-532+CA94 |
分類號 | 415.6 |
關鍵詞 | 血小板增多症; 原發性骨髓纖維化; MPL突變; 費城染色體陰性骨髓增生性腫瘤; 真性多血症; Essential thrombocythemia; Idiopathic myelofibrosis; MPL mutation; Myeloproliferative disorders; Polycythemia vera; |
語文 | 英文(English) |
英文摘要 | Background: The discovery of Janus kinase 2 (JAK2)-V617F has provided important insight into the pathogenesis of Philadelphia-negative chronic myeloproliferative neoplasms (Ph-negative MPNs); however, the etiology of JAK2V617F-negative Ph-negative MPN remains unidentified. MPLW515L and MPLW515K (MPLW515L/K) are 2 gain-of-function mutations, which have been found in some Ph-negative MPN patients from Western countries. However, little is known about the incidence of these mutations in Taiwanese Ph-negative MPN patients. Methods: We determined the MPL sequence of DNA samples from 105 patients, including 88 patients with Ph-negative MPNs and 17 with myelodysplastic syndrome, using polymerase chain reaction amplification of the cytokine receptor MPL exon 10 sequence. Results: All the patients were normal at codon 515 regardless of their JAK2 status. Conclusion: The MPL W515L/K mutations are rare in Taiwanese patients with Ph-negative MPNs. |
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