Aberrant expression of SPRING1 is involved in the progression of B-cell
acute lymphoblastic leukemia (B-ALL)
Abstract
Background: Precursor B-cell acute lymphoblastic leukemia
(B-ALL) is one of the most common types of leukemias in children. The
majority of B-ALL patients are distinguished by chromosomal
rearrangements; however, alternative splicing and epigenetic
deregulations can also change the expression level of transcripts
correlated with B-ALL. Therefore, the identification of prognostic and
predictive biomarkers as well as the use of individualized treatments
can help in B-ALL therapy. In this study, we performed an RNA-seq
analysis to determine differentially expressed RNA transcripts in B-ALL.
Methods: The RNA-seq data of 79 B-ALL and 14 non-malignant ITP
(immune thrombocytopenic purpura) samples were obtained from the Gene
Expression Omnibus (GEO) database. Moreover, RNA-seq was performed for
Iranian patients with B-ALL to identify differentially expressed genes
(DEGs). In order to experimentally validate the findings, the mRNA
expression of SPRING1 (or C12orf49) was evaluated in bone marrow
aspiration samples of B-ALL patients using quantitative reverse
transcription-PCR. Results: Differential expression analysis
revealed 920 downregulated and 1216 upregulated genes in B-ALL compared
to ITP samples. Quantitative RT-PCR revealed the significant
upregulation of SPRING1 (80%) in B-ALL patients. Functional
enrichment analysis exhibited that SPRING1 was principally
associated with lipopolysaccharide-mediated signaling pathways.
Conclusion: Our results provided evidence for the involvement
of SPRING1 in the B-ALL pathogenesis. However, further functional
and clinical research is needed to understand its role in dysregulation
of lipopolysaccharide-mediated signaling pathways in B-ALL.