慢性粒细胞白血病和原发性骨髓纤维化患者bcr/abl融合基因表达及临床意义

目的探讨bcr/abl融合基因的表达水平在慢性粒细胞白血病(CML)和原发性骨髓纤维化(MF)患者的诊断、疗效及预后观察中的意义.方法采用荧光定量逆转录多聚酶链反应(RT-PCR)技术,对18例初、复治CML、7例MF患者的骨髓或外周血单个核细胞进行了bcr/abl融合基因检测,并对其中2例行异基因骨髓移植(allo-BMT)患者进行了短期随防.结果 13例慢性期(CP)CML,12例不同程度表达bcr/abl融合基因,占92.3%,3例加速期(AP),急变期(BC)CML,2例表达bcr/abl融合基因,占66.7%,2例患者allo-BMT后一年内未检出 bcr/abl融合基因,三者之间有非常显著差异P＜0.01;8例初诊患者WBC数及bcr/abl融合基因表达水平明显高于常规治疗组;7例MF患者有1例表达bcr/abl基因.结论 bcr/abl基因是CML发病的分子基础,定量检测bcr/abl融合基因对于CML的诊断、临床分型、疗效观察及预后判断有重要意义;MF患者可能与CML关系密切,对MF患者应进行跟踪观察.

Expression of bcr/abl fusion gene in chronic myelogenous leukemia,primary myelofibrosis and their clinical significance

Objective:To study the level of bcr/abl fusion gene expression in the diagnosis,treatment and prognosis in chronic myelogenous leukemia(CML)and primary myelofibrosis(MF). Methods:Using FQ-PCR technique, mononuclearcells from bone marrow or peripheral blood samples from 18 cases with CML and 7 cases with MF are analyzed. and 2 cases with allogenetic bone morrow transplantation(allo-BMT)were followed up. Results: 11 cases expression bcr/abl fusion gene out of 13 cases of chronic phase (CP)with CML. It accounted for 91.7%. 2 cases expression bcr/abl fusion gene out of 3 cases of accelerated phase(AP) and blast crisis(BC) of CML, It accounted for 66.7%. 2 cases with CML who received allo-BMT showed negative bcr/abl fusion gene;Compared with the other two,there was statistical difference(P<0.01); 8 cases of untreated the WBC numbers and the level of bcr/abl fusion gene expression statistical higher then routine treated group. 1 case expression bcr/abl fusion gene out of 7 cases with M F. Conclusion:There was an important significanae in the diagnosis,clincal typing,treatment and prognosis in CML using bcr/abl gene quantitative detecting technique. MF might possess close relationship with CML. this kinds of patient must be more observed.