Differential expression of microRNAs in a patient with B-cell acute lymphoblastic leukemia with TCF3-PBX1 gene fusion resulting from t(1;19)(q23;p13.3) translocation: A case report

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-01-06 DOI:10.1016/j.genrep.2025.102131

Tania Souza de Liz , Ana Gabriela Rosa , Mariana Martins Vernaschi , Júlia Cisilotto , Tânia Beatriz Creczynski-Pasa

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引用次数: 0

Abstract

B-cell Acute Lymphoblastic Leukemia (B-ALL) is a hematologic disease characterized by the uncontrolled proliferation of B lymphoid precursor cells in the bone marrow. The t(1;19)(q23;p13) translocation with TCF3-PBX1 fusion is one of the most common rearrangement in children with B-ALL, occurring in approximately 6 % of the cases. The detection of genetic abnormalities is an important factor in these events, helping to elucidate prognosis, as well as to determine the treatment to be followed. Small RNA molecules capable of regulating gene expression, called microRNAs (miRNAs), play an important role in cell development and consequently are also involved in tumor development. The expression of miRNAs has been widely studied as biomarkers of several neoplasms, including the differential ones, which can identify genetic subtypes of the same disease. For this reason, this work reports a miRNA expression profile of a patient with childhood B-ALL diagnosed with TCF3-PBX1 rearrangement originated from t(1;19)(q23;p13.3) to identify miRNAs that might be involved in such translocation. As result, 29 miRNAs were shown to be differentially expressed (p < 0.0001, fold change >100) when compared to healthy controls. Among these miRNAs, miR-34a-5p, miR-708-5p, and miR-128-3p were overexpressed in the patient studied, which corroborates findings in the literature for patients with B-ALL without translocation specification. Conversely, miR-765, miR-455-3p, and miR-4697-5p were described for the first time in relation to B-ALL cases.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.