非典型bcr-abl融合基因急性淋巴细胞白血病一例并文献复习

Acute lymphoblastic leukemia with atypical bcr-abl rearrangement： a case report and literature review

目的 探讨少见b3a3型bcr-abl融合基因急性淋巴细胞白血病（ALL）的诊断及其特点.方法 对2010年确诊为ALL的1例患者进行核型分析,并通过荧光原位杂交（FISH）技术检测bcr-abl融合基因的存在,采用反转录聚合酶链反应（RT-PCR）检测该融合基因的断裂位点.结果 该患者的核型表现为45,XY,-7,t（9;22） （q34;q11）,FISH检测发现了bcr-abl融合基因的存在,RT-PCR检测出该融合基因的断裂位点为少见的b3a3型.结论 常规的检测方法只能检测出典型的bcr-abl融合基因,而非典型bcr-abl融合基因需结合多种检测手段才能检测出阳性结果.少见b3a3型bcr-abl融合基因及其融合蛋白的功能和潜在利用价值还有待发掘.

Objective To investigate the detection methods of atypical bcr-abl rearrangement with b3a3 fusion transcript,and to describe the characteristics of this fusion gene.Methods Karyotype analysis,FISH and RT-PCR were applied to detect the break point of bcr-abl fusion gene in a patient who was diagnosed as acute lymphoblastic leukemia.Results The karyotype of the patient was expressed as 45,XY,-7,t（9;22）（q34;q1 1）.The translocation event in chromosome 9 and 22 could be successfully detected by FISH,and a rare bcr-abl rearrangement with b3a3 fusion transcript was detected by RT-PCR with specific primers.Conclusions The rare e14a3 （b3a3） fusion of bcr-abl gene is present in this patient.Clinical laboratories using commercial kits that do not cover such rare fusions are likely to generate false result,thereby declaring combination of various methods to detect fusion genes is necessary.More studies are needed to explore the function and significance of rare bcr-abl fusion genes.