THE ROLE OF CHROMOSOMAL TRANSLOCATIONS IN HEMATOLOGIC MALIGNANCIES: MECHANISTIC INSIGHTS AND CLINICAL CORRELATES

Emmanuel Ifeanyi Obeagu; Abraham John Chuwkwuebuka; Ezeldine Abdalhabib

doi:10.22270/ujpr.v11i4.1630

Emmanuel Ifeanyi Obeagu Division of Haematology, Department of Biomedical and Laboratory Science, Africa University, Zimbabwe. Department of Molecular Medicine and Haematology, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Abraham John Chuwkwuebuka Department of Radiography and Radiation Science, Evangel University, Akaeze, Ebonyi State, Nigeria.
Ezeldine Abdalhabib Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al Qurayyat, Jouf University, Saudi Arabia.

10.22270/ujpr.v11i4.1630

Keywords:

chromosomal translocations, hematologic malignancies, leukemia, lymphoma, molecular mechanisms

Abstract

Chromosomal translocations are central drivers of hematologic malignancies, reshaping gene regulation, altering epigenetic states, and generating oncogenic fusion proteins that initiate and sustain malignant transformation. Advances in whole-genome sequencing, long-read mapping, and single-cell multiomics have expanded the catalog of recurrent and cryptic rearrangements while illuminating mechanisms such as enhancer hijacking, 3D chromatin architecture disruption, aberrant V(D)J recombination, and defective DNA repair. These insights reveal how translocations activate lineage-specific oncogenic programs across leukemias, lymphomas, and plasma-cell neoplasms. Clinically, translocations refine diagnostic classification, guide prognostic stratification, and increasingly direct targeted therapy, with fusion-specific agents, epigenetic modulators, and kinase inhibitors transforming outcomes for select subtypes. Their role in measurable residual disease (MRD) monitoring further enhances treatment precision. This review synthesizes recent mechanistic and clinical advances, emphasizing how an improved understanding of translocation biology is reshaping precision medicine in hematologic oncology.