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双色-双融合易位荧光原位杂交技术检测bcr/abl融合基因的临床意义

Clinical significance of dual color-dual fusion translocation fluorescence in situ hybridization in the detection of bcr/abl fusion gene.

作者信息

Wu Bin, Zhou Shuyun, Song Lanlin, Liu Xiaoli

机构信息

Department of Hematology, South Hospital, First PLA Medical University, Guangzhou 510515, China.

出版信息

Zhonghua Zhong Liu Za Zhi. 2002 Jul;24(4):364-6.

PMID:12408765
Abstract

OBJECTIVE

To study the expression of bcr/abl hybridized gene in chronic myeloid leukemia (CML), acute lymphatic leukemia (ALL) and polycythemia vera (PV), and its clinical significance.

METHODS

The bcr/abl hybridized gene of interphase metaphase cells of bone marrow in 67 such patients were investigated with a probe of dual color-dual fusion translocation fluorescence in situ hybridization (D-FISH).

RESULTS

In 38 CML patients, 34 (89.5%) were positive, with one having a typical t (9; 22) at first, which changed into negative after having been treated with interferon for 38 months. In another patient, 60 days after post-allogeneic peripheral blood stem cell transplantation (PBSCT), the cytomorphology and cytogenetics were in completely remission. But 3% cells were bcr/abl positive as detected by D-FISH. Six (25%) of 24 ALL patients were positive for Bcr/abl fusion gene, which was negative in 2 PV patients. Three patients suspected of having CML were also negative and one of these three was finally diagnosed as suffering from primary thrombocythemia and one, acute myeloid leukemia (M(2a)) as detected by ETO/AML(1) gene, though the other one was still not confirmed. Two (67%) of the 3 bcr/abl negative CML patients and 5 (87%) of the 6 bcr/abl positive ALL patients had refractory leukemia.

CONCLUSION

bcr/abl hybridized gene is accurately detected by a probe of dual color-dual fusion translocation fluorescence in situ hybridization, which can serve as an effective index for clinical diagnosis, estimation of prognosis and monitor of minimal residual disease in some hematopathies.

摘要

目的

研究bcr/abl杂交基因在慢性粒细胞白血病(CML)、急性淋巴细胞白血病(ALL)和真性红细胞增多症(PV)中的表达及其临床意义。

方法

采用双色双融合易位荧光原位杂交(D-FISH)探针检测67例此类患者骨髓中期相细胞的bcr/abl杂交基因。

结果

38例CML患者中,34例(89.5%)为阳性,1例初诊时具有典型的t(9;22),经干扰素治疗38个月后转为阴性。另1例患者,异基因外周血干细胞移植(PBSCT)后60天,细胞形态学和细胞遗传学完全缓解,但D-FISH检测发现3%的细胞bcr/abl阳性。24例ALL患者中有6例(25%)Bcr/abl融合基因阳性,2例PV患者均为阴性。3例疑似CML患者也为阴性,其中1例最终诊断为原发性血小板增多症,1例经ETO/AML(1)基因检测诊断为急性髓系白血病(M(2a)),另1例仍未确诊。3例bcr/abl阴性的CML患者中有2例(67%)和6例bcr/abl阳性的ALL患者中有5例(87%)患有难治性白血病。

结论

双色双融合易位荧光原位杂交探针能准确检测bcr/abl杂交基因,可作为某些血液病临床诊断、预后评估及微小残留病监测的有效指标。

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