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

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

doi:10.3892/ol.2017.6847

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
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Affiliations: Hematological Lab, Department of Hematology, The Second Hospital of Anhui Medical University, Hefei, Anhui 230601, P.R. China
Published online on: August 28, 2017 https://doi.org/10.3892/ol.2017.6847
Pages: 5619-5623

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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.

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