白血病·淋巴瘤
白血病·淋巴瘤
백혈병·림파류
JOURNAL OF LEUKEMIA & LYMPHOMA
2008年
2期
119-122
,共4页
申徐良%陈方平%魏武%张梅香%史文芝%秦小琪%徐洪亮
申徐良%陳方平%魏武%張梅香%史文芝%秦小琪%徐洪亮
신서량%진방평%위무%장매향%사문지%진소기%서홍량
骨髓增殖性疾病%融合蛋白类,bcr-abl%基因%点突变%PCR,等位基因特异性
骨髓增殖性疾病%融閤蛋白類,bcr-abl%基因%點突變%PCR,等位基因特異性
골수증식성질병%융합단백류,bcr-abl%기인%점돌변%PCR,등위기인특이성
Myeloproliferative disorders%Fusion proteins,bcr-abl%Genes%Point mutation%Polymerase chain reaction,allele-specific
目的 探索Janus Kinase 2V617F基因突变(JAK2V617F)在bcr-abl阴性骨髓增生性疾病(MPD)的发生率和临床意义.方法 基因组DNA从患者骨髓或外周血粒细胞中提取.采用等位基因特异性PCR(AS-PCR)、限制性内切酶消化和PCR产物测序的方法检测JAK2V617F突变.共检测患者110例,其中bcr-abl阴性MPD 41例、bcr-abl阳性慢性粒细胞白血病(CML)25例和急性白血病44例.结果 JAK2V617F阳性结果分别为真性红细胞增多症(PV)11例(91.7%)、原发性血小板增多症(ET)8例(53.3%)、特发性骨髓纤维化(IMF)4例(57.1%),而高嗜酸粒细胞增多症(HES)7例、bcr-abl阳性CML 25例和急性白血病44例[包括急性髓细胞白血病(AML)24例、急性淋巴细胞白血病(ALL)18例、急性混合细胞白血病2例1均未检测到JAK2V617F基因突变.在所有JAK2V617F阳性的标本和10份阴性标本中,AS-PCR和限制性内切酶消化方法的测定结果都可经测序进一步证实.结论 90%以上的PV、50%以上的ET和IMF可检测到JAK2V617F基因突变;JAK2V617F基因突变在PV、ET和IMF的诊断和鉴别诊断中有重要意义,可以作为诊断的分子标志,也可能是治疗的新靶点.
目的 探索Janus Kinase 2V617F基因突變(JAK2V617F)在bcr-abl陰性骨髓增生性疾病(MPD)的髮生率和臨床意義.方法 基因組DNA從患者骨髓或外週血粒細胞中提取.採用等位基因特異性PCR(AS-PCR)、限製性內切酶消化和PCR產物測序的方法檢測JAK2V617F突變.共檢測患者110例,其中bcr-abl陰性MPD 41例、bcr-abl暘性慢性粒細胞白血病(CML)25例和急性白血病44例.結果 JAK2V617F暘性結果分彆為真性紅細胞增多癥(PV)11例(91.7%)、原髮性血小闆增多癥(ET)8例(53.3%)、特髮性骨髓纖維化(IMF)4例(57.1%),而高嗜痠粒細胞增多癥(HES)7例、bcr-abl暘性CML 25例和急性白血病44例[包括急性髓細胞白血病(AML)24例、急性淋巴細胞白血病(ALL)18例、急性混閤細胞白血病2例1均未檢測到JAK2V617F基因突變.在所有JAK2V617F暘性的標本和10份陰性標本中,AS-PCR和限製性內切酶消化方法的測定結果都可經測序進一步證實.結論 90%以上的PV、50%以上的ET和IMF可檢測到JAK2V617F基因突變;JAK2V617F基因突變在PV、ET和IMF的診斷和鑒彆診斷中有重要意義,可以作為診斷的分子標誌,也可能是治療的新靶點.
목적 탐색Janus Kinase 2V617F기인돌변(JAK2V617F)재bcr-abl음성골수증생성질병(MPD)적발생솔화림상의의.방법 기인조DNA종환자골수혹외주혈립세포중제취.채용등위기인특이성PCR(AS-PCR)、한제성내절매소화화PCR산물측서적방법검측JAK2V617F돌변.공검측환자110례,기중bcr-abl음성MPD 41례、bcr-abl양성만성립세포백혈병(CML)25례화급성백혈병44례.결과 JAK2V617F양성결과분별위진성홍세포증다증(PV)11례(91.7%)、원발성혈소판증다증(ET)8례(53.3%)、특발성골수섬유화(IMF)4례(57.1%),이고기산립세포증다증(HES)7례、bcr-abl양성CML 25례화급성백혈병44례[포괄급성수세포백혈병(AML)24례、급성림파세포백혈병(ALL)18례、급성혼합세포백혈병2례1균미검측도JAK2V617F기인돌변.재소유JAK2V617F양성적표본화10빈음성표본중,AS-PCR화한제성내절매소화방법적측정결과도가경측서진일보증실.결론 90%이상적PV、50%이상적ET화IMF가검측도JAK2V617F기인돌변;JAK2V617F기인돌변재PV、ET화IMF적진단화감별진단중유중요의의,가이작위진단적분자표지,야가능시치료적신파점.
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.
