International Journal of Hematology

DOI: 10.1007/s12185-019-02768-x Pages: 217-224

Low prevalence of the BCRABL1 fusion gene in a normal population in southern Sarawak

1. Universiti Malaysia Sarawak (UNIMAS), Department of Medicine, Faculty of Medicine and Health Sciences (FMHS)

2. Kumamoto University, Laboratory of Transcriptional Regulation in Leukemogenesis, International Research Center for Medical Sciences (IRCMS)

3. FMHS, UNIMAS, Department of Community Medicine and Public Health

4. FMHS, UNIMAS, Department of Pathology

5. FMHS, UNIMAS, Department of Para-Clinical Sciences

6. National University of Singapore, Cancer Science Institute of Singapore

Correspondence to:
Goro Sashida
Email: sashidag@kumamoto-u.ac.jp

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Abstract

The BCRABL1 fusion gene is the driver mutation of Philadelphia chromosome-positive chronic myeloid leukemia (CML). Its expression level in CML patients is monitored by a real-time quantitative polymerase chain reaction defined by the International Scale (qPCRIS). BCRABL1 has also been found in asymptomatic normal individuals using a non-qPCRIS method. In the present study, we examined the prevalence of BCRABL1 in a normal population in southern Sarawak by performing qPCRIS for BCRABL1 with ABL1 as an internal control on total white blood cells, using an unbiased sampling method. While 146 of 190 (76.8%) or 102 of 190 (53.7%) samples showed sufficient amplification of the ABL1 gene at > 20,000 or > 100,000 copy numbers, respectively, in qPCRIS, one of the 190 samples showed amplification of BCRABL1 with positive qPCRIS of 0.0023% and 0.0032% in two independent experiments, the sequence of which was the BCRABL1 e13a2 transcript. Thus, we herein demonstrated that the BCRABL1 fusion gene is expected to be present in approximately 0.5–1% of normal individuals in southern Sarawak.

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