Difference in leukemia microenvironment induced by PAX5 mutations in acute lymphoblastic leukemia

Abstract Background:PAX5 mutations are involved in the development and recurrence of leukemia. There were few studies on how PAX5 mutations influencing leukemia bone marrow microenvironment. Methods: We obtained the mRNA profiling of B-acute lymphoblastic leukemia(ALL) patients from GSE11877 and the clinical features (including molecular genetics) from the literature. We identified differentially expressed genes (DEGs) between B-ALL with PAX5 mutations and B-ALL without PAX5 mutations in leukemia microenvironment using the LIMMA package of R. We assessed immune cell types by CIBERSORT. DEGs were analyzed using the DAVID,STRING and Coexpedia. Results: The results from CIBERSORT analysis showed that M0 macrophages were significantly increased from ALL PAX5 mutations. The results from DAVID analysis indicated that these DEGs were mostly involved in phosphorylation and antigen presentation from biological process categories. These DEGs may be involved in changes in macrophages. Other analyses from PPI network and co -expression network found three common genes such as IL1B, CD34, PDGFRB, which were highly related to angiogenesis. Conclusions: These changes hinted that PAX5 mutations led to macrophage changes, and macrophage changes were related to processes of antigen presentation and angiogenesis in leukemia microenvironment.