Introduction: Since the first fusion gene was discovered decades ago, a considerable number
of fusion genes have been detected in leukemia. The majority of them are generated through
chromosomal rearrangement or abnormal transcription. With the development of techniques, highthroughput
sequencing method makes it possible to detect fusion genes systematically in multiple human
cancers. Owing to their biological significance and tumor-specific expression, some of the fusion
genes are attractive diagnostic tools and therapeutic targets. Tyrosine kinase inhibitors (TKI) targeting
BCR-ABL1 fusions have been widely used to treat CML. The combination of ATRA and ATO targeting
PML-RARA fusions has proven to be effective in acute promyelocytic leukemia (APL). Moreover,
therapy with high dose cytarabine (HDAC) has significantly improved the prognosis of core binding
factor (CBF) acute myeloid leukemia (AML) patients. Therefore, studies on fusion genes may
benefit patients with leukemia by providing more diagnostic markers and therapies in the future.
Conclusion: The presented review focuses on the history of fusion genes, mechanisms of formation,
and treatments against specific fusion genes in leukemia.
Keywords: Fusion genes, Recurrent, Leukemia, AML, Treatment, Target.
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