Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review

Abstract

Objective To investigate the laboratory and clinical characteristics of acute lymphoblastic leukemia (ALL) with e1a3 BCR-ABL fusion protein. Methods The clinical data, and results of bone marrow cytology, flow cytometry, karyotyping, fluorescence in situ hybridization (FISH) and real-time fluorescence quantitative PCR of 2 ALL cases with e1a3 BCR-ABL fusion protein admitted in our department were collected and analyzed. The related literature was reviewed. Results Both cases presented ALL phenotype. FISH test showed BCR-ABL positive, and RQ-PCR (p190, p210, p230) negative. Finally, the rare BCR-ABL fusion gene test was added and the 2 patients were diagnosed as rare e1a3 BCR-ABL positive ALL. One patient received TKI treatment and had achieved complete remission for more than 4 months. Another patient did not receive TKI and died in longer than 1 month after diagnosis. Conclusion Multi-technique joint detection for fusion gene is helpful for the detection and diagnosis of ALL with e1a3 BCR-ABL fusion protein, and TKI therapy is helpful to improve the prognosis.

Keywords

• e1a3
• bcr-abl
• fusion gene
• acute lymphoblastic leukemia