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. 2020 Oct-Dec;10(4):234-239.
doi: 10.4103/ijabmr.IJABMR_179_19. Epub 2020 Oct 7.

Molecular Detection of Fusion Oncogenes in Zambian Patients with Acute Lymphoblastic Leukemia

Pauline Okuku  1   2 , Geoffrey Kwenda  3 , Mulemba Samutela  3 , Panji Nkhoma  3 , Hamakwa Mantina  2
Affiliations

Molecular Detection of Fusion Oncogenes in Zambian Patients with Acute Lymphoblastic Leukemia

Pauline Okuku et al. Int J Appl Basic Med Res. 2020 Oct-Dec.

Abstract

Introduction: Chromosomal aberrations play a significant role in the pathogenesis of acute lymphoblastic leukemia (ALL) with prognostic and therapeutic implications. Despite the availability of molecular tools, low-resource settings struggle to diagnose the disease due to limited diagnostic capacity. The objective of this study was to detect common chromosomal aberrations in patients with ALL attending the University Teaching Hospital (UTH) in Lusaka, Zambia.

Materials and methods: In this prospective study, 19 blood samples from patients with ALL were screened for the presence of BCR-ABL, E2A-PBX1, MLL-AF4, and ETV6-RUNX1 fusion oncogenes using reverse transcriptase-polymerase chain reaction assay. Blood counts and clinical characteristics of patients were also assessed.

Results: The age of patients ranged from 1½ to 72 years and comprised 57.9% of males and 42.1% of females. The majority of these patients were children (68%), and adults only comprised 32%. Only BCR-ABL and E2A-PBX1 oncogenes were detected in 3/19 of cases. The BCR-ABL gene was detected in a 4-year-old female child and a 15-year-old child. Both cases were associated with hepatomegaly and anemia coupled with low hemoglobin, white blood cell, and platelet counts. E2A-PBX1 was detected in a 12-year-old child with lymphadenopathy and splenomegaly, coupled with low hemoglobin, white blood cell, and platelet counts. All the three patients who harbored these fusion oncogenes died.

Conclusion: This is the first study from Zambia to investigate the presence of fusion oncogenes in leukemia patients, which were found only among the older children population. Based on these findings, we recommend that molecular diagnosis be made a priority for the younger leukemia patient population at UTH.

Keywords: Acute lymphoblastic leukemia; Zambia; fusion oncogenes; reverse transcriptase-polymerase chain reaction.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Laboratory findings of suspected acute lymphoblastic leukemia cases at diagnosis
Figure 2
Figure 2
Detection of fusion genes; A representative gel electrophoresis showing samples positive for gene fusion. M, 100 bp marker; 1, positive control; 2 and 3, samples positive for BCR/ABL (p190) gene fusion; 4, sample positive for E2A/PBX1 fusion gene and 5, negative control
See this image and copyright information in PMC

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