PAX5 融合基因在急性淋巴细胞白血病中的研究进展：文献综述。
PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.
机构信息
Biology Department, College of Science, Sultan Qaboos University, Muscat, Oman.
Chemistry Department, Biotechnology/Bimolecular Chemistry program, Faculty of Science, Cairo University, Giza, Egypt.
出版信息
Medicine (Baltimore). 2023 May 19;102(20):e33836. doi: 10.1097/MD.0000000000033836.
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.
急性淋巴细胞白血病（ALL）是一种常见的癌症，影响着全球的儿童。ALL 的发展是由几个基因驱动的，其中一些可以通过抑制基因融合来靶向治疗。PAX5 在 ALL 中经常发生突变，参与染色体重排和易位。PAX5 的突变与其他基因相互作用，如 ETV6 和 FOXP1，影响 B 细胞的发育。PAX5/ETV6 在 B-ALL 患者和小鼠模型中都有观察到。PAX5 和 FOXP1 之间的相互作用在 B-ALL 患者中负向抑制 Pax5 基因。此外，ELN 和 PML 基因已被发现与 PAX5 融合，导致 B 细胞分化不良。ELN-PAX5 相互作用导致 LEF1、MB1 和 BLNK 的表达减少，而 PML-PAX5 在白血病的早期阶段至关重要。PAX5 融合基因阻止 PAX5 基因的转录，使其成为研究白血病进展和诊断 B-ALL 的重要靶基因。
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