Detection of DEK-NUP214 and BCR-JAK2 fusions in acute myeloid leukemia using Nested PCR and immunophenotyping assay

Abstract

Author(s): Rafal F. J. Aleiqabie*, Fahrul Huyop and Ahmed D. Jabbar

Leukemia development is intricately linked to genetic factors, which contribute to genomic instability and rearrangements. In hematological malignancies, especially AML, fusion genes, which result from the fusion of two distinct genes, are commonly observed. Among these, the BCR-JAK2 fusion gene is a distinctive feature of AML, while the DEK NUP214 gene is known to enhance protein synthesis and disease progression. However, the precise roles played by these fusion proteins remain elusive. This study aimed to use advanced techniques, including nested Polymerase Chain Reaction (PCR) and flow cytometry, to identify DEK-NUP214 and BCR-JAK2 fusion genes in a cohort of Iraqi individuals diagnosed with Acute Myeloid Leukemia (AML). The investigation revealed the frequency of the DEK-NUP214 fusion gene as 2.85%, while the frequency of the BCR-JAK2 fusion was 1.42%. Additionally, the immunophenotyping assay yielded varying expression levels of CD13, CD33, CD10, and CD19, ranging from moderate to low. Importantly, it successfully detected fusion genes in all AML samples that tested positive for these genetic alterations. Remarkably, cell count analysis demonstrated that over 20% of cells in positive samples expressed the targeted CD markers. This research sheds light on the prevalence of DEK-NUP214 and BCR-JAK2 fusion genes among AML patients in Iraq, enhancing our comprehension of fusion events and potentially influencing treatment strategies. The detection methodology presented in this study offers a dependable, accessible, and cost-effective diagnostic tool.

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