A case of chronic myelogenous leukemia with e8a2 fusion transcript

Cancer Genetics and Cytogenetics
Il Joong ParkSung Ran Cho

Abstract

The Philadelphia chromosome and its corresponding fusion gene, BCR-ABL, is one of the best-known genetic abnormalities in hematological malignancies. Major BCR-ABL translocation is much more common in chronic myelogenous leukemia (CML) and minor BCR-ABL in acute lymphoblastic leukemia. We experienced an extraordinarily rare case of CML with an e8a2 variant. An unusual band, other than the common transcripts, was observed in reverse transcription-polymerase chain reaction (RT-PCR) for the BCR-ABL gene rearrangement. Sequence analysis of the PCR product revealed an 1172-bp e8a2 fusion with a 14-bp insertion of ABL intron Ia. The patient achieved a complete hematological response 3 months after imatinib treatment. It is necessary to keep in mind that an unexpected band revealed with RT-PCR may mean the presence of unusual fusion gene.

References

Oct 13, 1988·The New England Journal of Medicine·R KurzrockM Talpaz
Feb 11, 2005·Leukemia·S DemehriM W N Deininger
Oct 12, 2007·Leukemia Research·Thomas Burmeister, Richard Reinhardt

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Citations

Mar 26, 2011·European Journal of Haematology·Etienne De BraekeleerMarc De Braekeleer
Aug 8, 2015·Genes, Chromosomes & Cancer·Sarah HuetUNKNOWN GBMHM (Groupe des Biologistes Moléculaires des Hémopathies Malignes, French Molecular Biology Group in Hematology)

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