特发性骨髓纤维化患者JAK2V617F突变探究.docVIP

特发性骨髓纤维化患者JAK2V617F突变探究 　 作者：李伟达，李建勇，张苏江，仇海荣，徐卫 ，王季石 【摘要】 　　为了探讨特发性骨髓纤维化（IMF）JAK2V617F点突变发生率及其临床意义，运用等位基因特异性聚合酶链式反应（ASPCR）检测12例IMF患者的JAK2V617F点突变，并探讨JAK2V617F变化与临床、血液学特征的相关性。结果显示：随访期2-15个月，12例患者JAK2V617F点突变检测阳性率为50%，而半数患有血栓史，其血小板数目及骨髓巨核细胞数目相对增多。另6例JAK2V617F点突变阴性患者仅1例有血栓史，血小板数目及骨髓巨核细胞数目相对较低。结论：JAK2V617F点突变阳性IMF患者多数具有典型的临床表现及血液学特点，其血小板数目及骨髓巨核细胞数目相对增多。 【关键词】 特发性骨髓纤维化；JAK2V617F点突变；血小板；骨髓巨核细胞 　　JAK2V617F Mutation in Patients with Idiopathic Myelofibrosis Abstract To investigate JAK2V617F mutation and its clinical significance in patients with idiopathic myelofibrosis (IMF), genomic DNA was extracted from peripheral blood cell samples of 12 IMF cases . Allelespecific PCR (ASPCR) was performed to identify JAK2V617F mutation, and the results were confirmed by sequence analysis. A retrospective study was performed to explore the correlation between JAK2V617F mutation and the clinical, hematologic features. The results showed that in followup for 2 to 15 months, the occurrence of the possitive point mutation in 12 patients with IMF was 50%, and the half of these positive patients had thrombosis. Patients with JAK2V617F point mutation had a higher counts of platelets and megakaryocytes in bone marrow than those in patients without JAK2V617F point mutation. Out of other 6 IMF patients without JAK2V617F point mutation only 1 patient had thrombosis, and lower counts of platelets in perepheral blood and megakaryocytes in bone marrow. It is concluded that majority of IMF patients with positive JAK2V617F point mutation have typical clinical and hematologic features, higher incidence of thrombosis, and higher counts of platelets in peripheral blood and megakaryocytes in bone marrow. Key words IMF; JAK2V617F mutation; platelet; megakaryocyte 特发性骨髓纤维化（idiopathic myelofibrosis, IMF）是由于骨髓造血组织中胶原增生进而影响造血功能的一种骨髓增生性疾病（myeloproliferative disease, MPD），本病具有不同程度的骨髓纤维组织增生及发生在脾、肝和淋巴结内的髓外造血。我们运用等位基因特异性聚合酶链反应（alleles specific polymerase chain reaction, ASPCR）对12名IMF患者行JAK2V617F突变检测，并结合临床