JAK2V617F点突变在BCR-ABL阴性骨髓增殖性疾病中的意义

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。

Significance of the JAK2V617 mutation in BCR-ABL-negative myeloproliferative disorders

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.