Evaluating and detection of JAK2V617F point mutation in bcr-abl-negative myeloproliferative disorders

Xuliang SHEN; Fangping CHEN; Wu WEI; Meixiang ZHANG; Wenzhi SHI; Xiaoqi QIN; Hongliang XU

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Evaluating and detection of JAK2V617F point mutation in bcr-abl-negative myeloproliferative disorders

VernacularTitle:bcr-abl阴性骨髓增生性疾病患者JAK2V617F点突变检测的临床意义
Author: Xuliang SHEN ; Fangping CHEN ; Wu WEI ; Meixiang ZHANG ; Wenzhi SHI ; Xiaoqi QIN ; Hongliang XU
Publication Type:Journal Article
Keywords: Myeloproliferative disorders; Fusion proteins,bcr-abl; Genes; Point mutation; Polymerase chain reaction,allele-specific
From: Journal of Leukemia & Lymphoma 2008;17(2):119-122
CountryChina
Language:Chinese
Abstract: 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 DNA sequencing. Conclusion The frequency of JAK2V617F mutation was more than 90 % among patients with PV, more than 50 % among patients with ET and IMF. The detection of JAK2V617F mutation will be of great significanees in the diagnosis and differential diagnosis of MPD. This mutation can be a molecular marker of MPD and might be a treatment target in the future.