bcr-abl阴性骨髓增生性疾病患者JAK2V617F点突变检测
的临床意义
申徐良;陈方平;魏武;张梅香;史文芝;秦小琪;徐洪亮
【期刊名称】《白血病·淋巴瘤》 【年(卷),期】2008(017)002
【摘要】Objective To study the Janus Kinase 2 V617F (JAK2V617F) point mutation in bcr-abl-negative myeloproliferative disorders (MPD) and explore its clinical significances. Methods Genomic DNA was isolated from bone marrow or peripheral-blood granulocytes. Allelespecific-polymerase chain reactions (AS-PCR), restriction enzyme digestion in combination with PCR product sequencing were performed to detect the mutation in genomic DNA. 110 patients were detected, including 41 with
bcr-ablnegative
MPD,
25
with
bcr-abl-positive
chronic
myelogenous leukemia (CML), and 44 with acute leukemia.Results JAK2V617F was presented in 11 cases(91.7 %) of 12 polycythemia vera (PV), 8 cases(53.3 %) of 15 essential thrombocythemia(ET), 4 cases (57.1%) of 7 idiopathic myelofibrosis (IMF), while in other patients including 7 hypereosinophilic syndrome (HES), 25 bcr-abl-positive CML, 24 acute myelocytic leukemia (AML), 18 acute lymphoblastic leukemia(ALL), and 2 acute mixed lineage leukemia, JAK2V617F can not be detected. All positive samples and 10 negative samples identified by AS-PCR and restriction enzyme digestion were confirmed further by
bcr-abl阴性骨髓增生性疾病患者JAK2V617F点突变检测的临床意义
