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JAK2V617F点突变在BCR-ABL阴性骨髓增殖性疾病中的意义 被引量:3

Significance of the JAK2V617 mutation in BCR-ABL-negative myeloproliferative disorders
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摘要 目的研究JAK2V617F点突变在诊断BCR—ABL融合基因阴性的骨髓增殖性疾病(MPD)患者中的意义。方法选择51例BCR—ABL阴性MPD患者,采用等位基因特异PCR法检测各组患者JAK2V617F的突变情况。结果51例BCR—ABL融合基因阴性的MPD患者中,34例JAK2V617F突变阳性,其中原发性血小板增多症(ET)18例(69.23%),真性红细胞增多症(PV)16例(66.67%),特发性骨髓纤维化(IMF)1例为阴性;PV与ET患者相比更容易发生肝脾肿大、脑梗死、静脉血栓形成、高尿酸血症等并发症(P〈0.05)。ET患者中,JAK2V617F突变阳性组白细胞计数较阴性组高(P〈0.05)。ET患者中,JAK2V617F突变阳性组白细胞计数较阴性组高(P〈0.05),ET和PV患者中JAK2V617F突变阳性组都比阴性组更容易发生上述并发症等(P均〈0.05)。结论JAK2V617F点突变在BCR—ABL融合基因阴性MPD中有较高的发生率,具有明确的诊断学意义;ET及PV患者中此突变阳性者更易发生血栓形成等并发症。 Objective To explore the significance of JAK2V617F mutation in BCR-ABL-negative myeloproliferative disorders (MPD). Methods 51 patients with BCR-ABL-negative MPD were examined. Allele gene specific PCR was performed to identify the JAK2V617 mutation. Results JAK2V617F muta- tion was detected in 18 primary thrombocythemia (ET)cases (69.23%, 18/26 )and 16 polycythemia vera (PV) cases (66.67% , 16/24). Incidence of compilations, such as hepatosplenomegaly, venous thrombosis, cerebral infarction and hyperuricemia, was significantly higher in patients with PV than in patients with ET. JAK2V617-positive patients with ET or PV had higher leukocytes counts and more complications than JAK2V617-negative patients. Conclusion JAK2V617F mutation is frequent in BCR-ABL-negative MPD, which is important for the diagnosis. JAK2V617-positive patients with ET or PV are all liable to develop complications.
出处 《临床内科杂志》 CAS 2009年第9期596-598,共3页 Journal of Clinical Internal Medicine
关键词 骨髓增殖性疾病 JAK2V617F突变 并发症 Myeloproliferative disorders JAK2V617F, mutation Complication
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参考文献12

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共引文献1

同被引文献29

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