Detection of the E2A-PBX1 Fusion Gene in Acute Lymphoid Malignancies

Abstract

Genomic instability is a hallmark of leukemia, often leading to chromosomal rearrangements and the formation of fusion genes such as E2A–PBX1, a well-characterized oncogenic transcription factor. This study investigated the prevalence of the E2A–PBX1 fusion gene among Iraqi patients with acute lymphoblastic leukemia (ALL) using nested PCR. A total of 100 blood samples from newly diagnosed ALL patients aged 5–25 years were analyzed alongside age-matched healthy controls. The fusion gene was detected in 5.3% of patients under 10 years and 3.1% of those aged 11–25 years, consistent with global reports. Agarose gel electrophoresis confirmed the fusion transcript by a distinct 280 bp PCR product. These findings highlight the diagnostic and prognostic significance of E2A–PBX1, particularly in pediatric and pre-B-cell ALL, and support its use as a molecular marker and potential therapeutic target.