1. How to detect the rare BCR-ABL (e14a3) transcript: A case report and literature review.
- Author
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LIN-HUI HU, LIAN-FANG PU, DONG-DONG YANG, CUI ZHANG, HUI-PING WANG, YANG-YANG DING, MAN-MAN LI, ZHI-MIN ZHAI, and SHUDAO XIONG
- Subjects
CHROMOSOMES ,CHROMOSOMAL translocation ,CHRONIC myeloid leukemia ,KARYOTYPES ,REVERSE transcriptase polymerase chain reaction - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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