Publication: A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: Diagnostic challenges in clinical laboratory practice
Issued Date
2009-01-01
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ISSN
15251578
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2-s2.0-69249097923
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Molecular Diagnostics. Vol.11, No.4 (2009), 359-363
Suggested Citation
Natini Jinawath, Alexis Norris-Kirby, B. Douglas Smith, Christopher D. Gocke, Denise A. Batista, Constance A. Griffin, Kathleen M. Murphy A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: Diagnostic challenges in clinical laboratory practice. Journal of Molecular Diagnostics. Vol.11, No.4 (2009), 359-363. doi:10.2353/jmoldx.2009.090008 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/27333
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Title
A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: Diagnostic challenges in clinical laboratory practice
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Abstract
Patients with chronic myelogenous leukemia have a t(9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL fusion gene. BCR-ABL detection by quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) is the standard practice for monitoring residual disease in patients with chronic myelogenous leukemia who receive tyrosine kinase inhibitor therapies. In this study, we describe a patient who tested positive for the BCR-ABL translocation by fluorescence in situ hybridization and cytogenetic analysis but tested negative by qRT-PCR molecular analysis at the time of diagnosis. Further PCR analysis and DNA sequencing with alternative primer sets demonstrated the presence of an e14a3 (also known as b3a3) BCR-ABL fusion. The e14a3 fusion is rare, but may be underreported as a result of many commercially available and laboratory-developed primer sets that fail to detect breakpoints in the ABL gene that are downstream of intron 1. For this patient, if the qRT-PCR assay had been used to monitor disease response/progression after treatment and not in conjunction with fluorescence in situ hybridization or cytogenetics at the time of diagnosis, the negative result would have been misinterpreted as molecular remission. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology.