如何检测罕见的BCR-ABL（e14a3）转录本：一例病例报告及文献综述
How to detect the rare BCR-ABL (e14a3) transcript: A case report and literature review.
作者信息
Hu Lin-Hui, Pu Lian-Fang, Yang Dong-Dong, Zhang Cui, Wang Hui-Ping, Ding Yang-Yang, Li Man-Man, Zhai Zhi-Min, Xiong Shudao
机构信息
Hematological Lab, Department of Hematology, The Second Hospital of Anhui Medical University, Hefei, Anhui 230601, P.R. China.
出版信息
Oncol Lett. 2017 Nov;14(5):5619-5623. doi: 10.3892/ol.2017.6847. Epub 2017 Aug 28.
The Philadelphia (Ph; BCR-ABL) chromosome originates from a translocation event between chromosomes 9 and 22, and results in the BCR-ABL fusion gene. In chronic myelogenous leukemia (CML), the BCR-ABL gene is mainly coded for by a major breakpoint cluster region (M-bcr, e13a2 and e14a2). However, in some patients, BCR-ABL genes are encoded by a minor (m)-bcr, e1a2, and a micro (µ)-bcr region, e19a2. These transcripts revealed a different clinical course. The present study described a CML patient whose cytogenetics and FISH analyses of bone marrow revealed a karyotype of 46, XY t(9,22) (q34;q11), while the commercial kits of quantitative PCR (qPCR) failed to detect the BCR-ABL fusion gene. Further multiplex Reverse transcription-PCR (RT-PCR) and sequencing analyses identified a rare e14a3 (b3a3) fusion transcript.
费城（Ph；BCR-ABL）染色体起源于9号和22号染色体之间的易位事件，导致BCR-ABL融合基因的产生。在慢性髓性白血病（CML）中，BCR-ABL基因主要由主要断裂点簇区域（M-bcr，e13a2和e14a2）编码。然而，在一些患者中，BCR-ABL基因由次要（m）-bcr、e1a2和微小（µ）-bcr区域e19a2编码。这些转录本显示出不同的临床病程。本研究描述了一名CML患者，其骨髓的细胞遗传学和荧光原位杂交（FISH）分析显示核型为46，XY，t（9；22）（q34；q11），而定量聚合酶链反应（qPCR）的商业试剂盒未能检测到BCR-ABL融合基因。进一步的多重逆转录聚合酶链反应（RT-PCR）和测序分析鉴定出一种罕见的e14a3（b3a3）融合转录本。
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