荧光原位杂交技术检测BCR/ABL融合基因的临床应用

Detection of BCR/ABL Fusion Gene by Fluorescence In Situ Hybridization and Its Clinical Application

本研究探讨应用荧光原位杂交技术(FISH)检测BCR/ABL融合基因在临床中的应用价值。对初诊考虑为慢性骨髓增殖性疾病或骨髓增生异常/骨髓增殖性疾病的患者、急性淋巴细胞白血病患者及异基因造血干细胞移植后的慢性髓系白血病(CML)患者,行骨髓细胞学检查并用FISH法检测BCR/ABL融合基因。结果表明:①46例在初诊时考虑为慢性骨髓增殖性疾病或骨髓增生异常/骨髓增殖性疾病的患者中,有22例患者诊断为CML,应用FISH法检测BCR/ABL融合基因均为阳性(100%),骨髓细胞学检查显示CML者占86.4%(19/22);另24例患者诊断为非CML的慢性骨髓增殖性疾病及骨髓增生异常/骨髓增殖性疾病,FISH法检测BCR/ABL融合基因均为阴性(100%),而骨髓细胞学检查有3例支持CML诊断、1例支持MDS诊断;②7例急性淋巴细胞白血病患者,有3例FISH法检测BCR/ABL融合基因为阳性;③2例异基因造血干细胞移植后的CML患者,应用FISH法检测BCR/ABL融合基因可检测到阳性细胞(分别为6.5%及1.2%)。结论:FISH法检测BCR/ABL融合基因敏感、可靠,对慢性骨髓增殖性疾病及骨髓增生异常/骨髓增殖性疾病的诊断及鉴别诊断有重要价值;可明确Ph+急性淋巴细胞白血病患者的诊断;在CML患者行异基因造血干细胞移植后监测微小残留病灶方面也有重要意义。

This study was aimed to investigate the clinical value of detecting BCR/ABL fusion gene by fluorescence in situ hybridization（FISH）.The conventional cytogenetic test and detection of BCR/ABL fusion gene by FISH for bone marrow of patients with newly diagnosed chronic myeloproliferative disease or myelodysplastic and myeloproliferative disorders,acute lymphocytic leukemia and chronic myelogeneous leukemia（CML） after allogeneic hematopoietic stem cell transplantation were carried out.The results showed that（1） out of 46 newly diagnosed as chronic myeloproliferative dsease or myelodysplastic and myeloproliferative disorders,22 cases were diagnosed as CML,the FISH detection showed all positive（100%）,while cytogenetic test showed 86.4%（19/22） positive,in the other 24 patients who were diagnosed as other chronic myeloproliferative disease or myelodysplastic and myeloproliferative disorders,BCR/ABL fusion gene all were be detected as regative 100% by FISH,while the cytogenetic test of bone marrow in 3 cases supported the diagnosis of CML,and the diagnosis of myelodysplastic disorder in 1 case;（2） in 3 out of 7 acute lymphocytic leukemia cases the BCR/ABL fusion gene could not be detected by FISH;（3） the BCR/ABL fusion gene could be detected by FISH in 2 cases of CML received allogeneic hematopoietic stem cell transplantation,with abnormal threshold 6.5% and 1.2% respectively.It is concluded that the detection of BCR/ABL fusion gene by FISH is sensitive and reliable,which is very important for the diagnosis and differential dignosis of chronic myeloproliferative disorders,myelodysplastic and myeloproliferative disease,as well as definite diagnosis of Ph＋ acute lymphoblastic leukemia.This method also has an important significance for monitor of minimal residual disease in CML patients received allogeneic hematopoietic stem cell transplantation.