BCR/ABL探针在骨髓增殖性疾病中的临床运用

本研究通过回顾分析荧光原位杂交(FISH)检测BCR/ABL融合基因结果,探讨其在慢性骨髓增殖性疾病(CMPD)和Ph+急性淋巴细胞白血病(Ph+ALL)的鉴别诊断及治疗后微小残留病(MRD)动态监测中的运用价值。初诊和治疗后病例分别使用BCR/ABL(ES)和BCR/ABL(DF)探针检测BCR/ABL融合基因。结果表明:初诊CMPD 49例,形态学符合CML骨髓象28例,确诊CML 23例,形态符合率23/28(82.1%),BCR/ABL阳性23/23,敏感度、特异度均为100%。确诊病例BCR/ABL阳性细胞率为81.3%±17.7%;allo-HSCT 13例,9例长期无病生存,4例复发,经供者淋巴细胞输注(DLI)、伊马替尼或allo-HSCT治疗后多次监测BCR/ABL阴性;伊马替尼治疗16例,其中11例于1年后多次监测BCR/ABL阴性,5例分别于6、7、10年后监测BCR/ABL阳性,其中1例经allo-HSCT成功,BCR/ABL转阴。结论:FISH技术是一项敏感、特异的诊断技术,针对初诊和治疗后病例分别运用两种不同的探针检测BCR/ABL融合基因,有助于准确、快速鉴别诊断CML、Ph+ALL,动态监测酪氨酸激酶抑制剂治疗和allo-HSCT后MRD。

Clinical Application of BCR/ABL Probes in Myeloproliferative Disordors

This study was purposed to explore the application value of fluorescence in situ hybridization（FISH） detection in differential diagnosis of chronic myeloproliferative disorders（CMPD） and Ph^＋ acute lymphoblastic leukemia（Ph^＋ ALL）,as well as in dynamic monitoring of minimal residual disease（MRD） after treatment.The BCR/ABL fusion gene of newly diagnosed and treated cases was detected by using BCR/ABL（ES） probe and BCR/ABL（DF） probe respectively.The results showed that among 49 newly diagnosed cases considered as CMPD,28 cases met the criterion of CML morphologically,out of them 23 cases were eventually diagnosed to be CML and with morphological consistent rate 82.1%（23/28）,the sensitiveity and specificity all were 100%（23/23）.The BCR/ABL positive rate of eventually diagnosed cases was 81.3%±17.7%.Among 13 cases received allogeneic haemopoietic stem cell transplantation（allo-HSCT）,9 cases achived long-term disease-free survival and 4 cases relapsed,the several monitoring for whom after donor lymphocyte infusion（DLI） and imatinib treatment or allo-HSCT showed BCR/ABL negative.Among 16 cases treated with imatinib,11 cases remained BCR/ABL negative after 1 year;5 cases showed BCR/ABL positive during 6,7 and 10 years after treatment,respectively,but out of them BCR/ABL positive in 1 case turned negative after allo-HSCT.It is concluded that the FISH is sensitive and specific diagnostic technique,the detection of BCR/ABL fusion gene in newly diagnosed and treated cases by using 2 different probes can help to fast and accuratly determine the differential diagnosis for CML and Ph^＋ALL,and dynamically monitor the MRD after treatment with imatinib and allo-HSCT.