How to detect the rare BCR-ABL (e14a3) transcript: A case report and literature review

被引:11
作者
Hu, Lin-Hui [1 ]
Pu, Lian-Fang [1 ]
Yang, Dong-Dong [1 ]
Zhang, Cui [1 ]
Wang, Hui-Ping [1 ]
Ding, Yang-Yang [1 ]
Li, Man-Man [1 ]
Zhai, Zhi-Min [1 ]
Xiong, Shudao [1 ]
机构
[1] Anhui Med Univ, Hosp 2, Hematol Lab, Dept Hematol, 678 Furong Rd, Hefei 230601, Anhui, Peoples R China
关键词
BCR-ABL; e14a3; chronic myelogenous leukemia; CHRONIC MYELOID-LEUKEMIA; CHRONIC MYELOGENOUS LEUKEMIA; ATYPICAL B3/A3 JUNCTION; BCR/ABL GENE; SH3; DOMAIN; EXON A2; FUSION; TRANSLOCATIONS; CHALLENGES; PATIENT;
D O I
10.3892/ol.2017.6847
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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 (mu)-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.
引用
收藏
页码:5619 / 5623
页数:5
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