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- Title
How to detect the rare BCR-ABL (e14a3) transcript: A case report and literature review.
- Authors
LIN-HUI HU; LIAN-FANG PU; DONG-DONG YANG; CUI ZHANG; HUI-PING WANG; YANG-YANG DING; MAN-MAN LI; ZHI-MIN ZHAI; SHUDAO XIONG
- 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.
- Subjects
CHROMOSOMES; CHROMOSOMAL translocation; CHRONIC myeloid leukemia; KARYOTYPES; REVERSE transcriptase polymerase chain reaction
- Publication
Oncology Letters, 2017, Vol 14, Issue 5, p5619
- ISSN
1792-1074
- Publication type
Case Study
- DOI
10.3892/ol.2017.6847