Fusion gene landscape in acute lymphoblastic leukaemia: an eight-year overview (2017-2025) from the Institute for Medical Research
DOI:
https://doi.org/10.63719/imrj.2026.12.02.005Keywords:
acute lymphoblastic leukaemia, B-ALL, T-ALL, ETV6::RUNX1, BCR::ABL1Abstract
Acute lymphoblastic leukaemia (ALL) is the most common malignancy in children, whereas adult cases are less frequent but often associated with poorer clinical outcomes. Fusion genes represent important molecular biomarkers that contribute to disease classification, risk stratification, and treatment selection. However, comprehensive data describing the molecular landscape of ALL in Malaysia remain limited. This retrospective study analysed 1253 referral samples received at the Leukaemia Translocation Laboratory, Institute for Medical Research, between 2017 and 2025. Demographic characteristics and molecular findings were evaluated. Among the patients analysed, 60.5% (n = 758) were paediatric, and 39.5% (n = 495) were adults. Male patients accounted for 58.2% of cases. The ethnic distribution comprised Malays (57.5%), Chinese (15.2%), Indians (4.6%), and other ethnicities (22.7%). Fusion genes were detected in 32.5% (n = 407) of cases, while 67.5% (n = 846) showed no detectable rearrangements. Among the fusion-positive cases, BCR::ABL1 was the most frequent abnormality (41.0%), followed by ETV6::RUNX1 (32.0%), TCF3::PBX1 (9.0%), and KMT2A::AFF1 (7.0%). BCR::ABL1 was predominantly detected in adult B-ALL, whereas ETV6::RUNX1 occurred almost exclusively in paediatric cases. Several rare rearrangements and TAL1-associated deletions were also identified, highlighting the molecular heterogeneity of ALL. Overall, these findings provide an updated overview of the fusion gene landscape in Malaysian ALL patients and emphasise the importance of molecular diagnostics in supporting accurate classification, prognostic stratification, and targeted treatment strategies.
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Copyright (c) 2026 Azian Naila Md Nor, Nor Rizan Kamaluddin, Ezalia Esa, Suguna Somasundram, Norafiza Mohd Yasin, Ermi Neiza Mohd Sahid, Nurul Aqilah Ali, Siti Nornazihah Mohd Rosdi, Rafizie Rafiq Adha Mat Kamal, Noraizan Ahmad, Zahidah Abu Seman, Nadirah Zainal Abidin, Yuslina Mat Yusoff (Author)
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