PAX5 fusion genes in acute lymphoblastic leukemia: A literature review

Abstract

Acute lymphoblastic leukemia (ALL) is a common cancer affecting children worldwide. The development of ALL is driven by several genes, some of which can be targeted for treatment by inhibiting gene fusions. PAX5 is frequently mutated in ALL and is involved in chromosomal rearrangements and translocations. Mutations in PAX5 interact with other genes, such as ETV6 and FOXP1, which influence B-cell development. PAX5/ETV6 has been observed in both B-ALL patients and a mouse model. The interaction between PAX5 and FOXP1 negatively suppresses the Pax5 gene in B-ALL patients. Additionally, ELN and PML genes have been found to fuse with PAX5, leading to adverse effects on B-cell differentiation. ELN-PAX5 interaction results in the decreased expression of LEF1, MB1, and BLNK, while PML-PAX5 is critical in the early stages of leukemia. PAX5 fusion genes prevent the transcription of the PAX5 gene, making it an essential target gene for the study of leukemia progression and the diagnosis of B-ALL.

Figure 1.

Fusion between PAX5 and ETV6. There is binding between the 3′ end of PAX and 5′ end of ETV6. PAX5 = paired box 5.

Figure 2.

Relationship between ALL (acute lymphoblastic leukemia) and PAX5-PML. Fusion between PAX5 and PML leads to the blocking of transcription and expression of PAX5 and affects the differentiation of B cells. Conversely, PML nuclear bodies are disrupted and inhibit the apoptosis process. PAX5 = paired box 5.