The e1a3 BCR-ABL1 fusion transcript in Philadelphia chromosome-positive acute lymphoblastic leukaemia: a case report

Abstract

ABSTRACTThe Philadelphia (Ph) chromosome results from the formation of breakpoint cluster region (BCR)-Abelson 1 (ABL1) fusion gene (BCR-ABL1). The most common type of adult acute lymphoblastic leukaemia (ALL) is Ph chromosome-positive (Ph+); Ph+ ALL has an incidence of 25%∼30%. Several types of BCR-ABL1 fusion transcripts have been reported, including e1a2, e13a2 and e14a2. In addition, some rare BCR-ABL1 transcripts, such as e1a3, have been reported in chronic myeloid leukaemia. However, until now, the presence of e1a3 BCR-ABL1 fusion transcripts has only been reported in a few cases of ALL. In this study, a rare e1a3 BCR-ABL1 fusion transcript was found in a patient diagnosed with Ph+ ALL. However, the patient also suffered from severe agranulocytosis with pulmonary infection and died after being transferred to the intensive care unit before the significance of the presence of e1a3 BCR-ABL1 fusion transcript could be determined. In conclusion, e1a3 BCR-ABL1 fusion transcripts related to Ph+ ALL cases need to be better identified, and appropriate treatment strategies must be designed for such cases.

Keywords: Acute lymphoblastic leukaemia; BCR-ABL1 fusion gene; e1a3.