Abstract

B-Cell Acute Lymphoblastic Leukemia account for approximately 80% of leukemia cases in children and adolescents. Numerical chromosomal changes are important prognostic factors. Trisomy 8 is one of the most frequent numerical aberrations in acute myeloid leukemia but is rarely found in lymphoid malignancies. Here, we share our findings in a childhood acute lymphoblastic leukemia patient with trisomy 8, referred for diagnostic assessment. Physical examination, myelogram, complete blood count, cytogenetic, and RT-PCR analysis for TEL-AML1 and E2A-PBX1 rearrangements were carried out. Microarray methodology was used to assess the miRNA expression profile. We highlight 36 miRNAs differentially expressed (p < 0.001, fold change >2.0) comparing with mononuclear cells from five subjects without leukemia. Among the miRNAs differentially expressed in our patient, only two have been described in B-ALL, namely miR-133b and miR-181b-5p. Some miRNAs which was downregulated in our patient as miR-495 and miR-127 have tumor suppressor function. None of the miRNAs located on chromosome 8 were significantly upregulated. The relationship between the altered miRNA expression profiles and leukemogenesis can be associated with global changes in gene expression and regulation patterns caused by acquired trisomy 8, influencing the patient's response to treatment and prognosis.

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