Evaluating the Genetic and Molecular Biomarkers in Pediatric Acute Lymphoblastic Leukemia: Implications for Early Diagnosis and Targeted Therapy
1Dr. Danish Ali, 2Dr Faiza Maqsood, 3Dr Mohammad Fahim ur Rehman, 4Dr Meshkat Ali Shah, 5Dr Kamran Safdar, 6Dr Ahmad Haroon
Submission: 13 February 2026 | Acceptance: 19 March 2026 | Publication: 04 April 2026,
1Senior registrar Paediatric medicine Allied Hospital-1, Faisalabad
2Assistant Professor, Bolan Medical College, Quetta
3Assistant Professor Paedriatric Hematology Oncology, Children Hospital and Institute of Child Health, Faisalabad
4Assistant professor PAEDS deptt. Women and Children Teaching Hospital MTI Bannu
5Associate Professor, Jinnah Hospital, Lahore
6Assistant Professor, Services Hospital, Lahore
ABSTRACT:
Background: Pediatric Acute Lymphoblastic Leukemia (ALL) remained the most common hematologic malignancy in children, representing a significant burden on healthcare due to its aggressive nature and potential for relapse. Advances in genetic and molecular profiling had played a crucial role in improving risk stratification, diagnosis, and therapeutic interventions. Specific genetic alterations and molecular biomarkers had been associated with prognosis and therapeutic response, enabling clinicians to tailor treatments more precisely.
Aim: This study aimed to evaluate the genetic and molecular biomarkers present in pediatric ALL patients to determine their implications in early diagnosis, prognosis, and suitability for targeted therapy.
Methods: This observational, cross-sectional study was conducted at Shifa International Hospital, Islamabad, from June 2024 to July 2025. A total of 90 pediatric patients newly diagnosed with ALL were included. Bone marrow aspirates and peripheral blood samples were collected for cytogenetic analysis, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR)-based assays to detect common translocations and mutations such as TEL-AML1, BCR-ABL1, E2A-PBX1, and MLL rearrangements. Quantitative gene expression profiles were also assessed using RT-PCR to identify prognostic markers and therapeutic targets.
Results: Among the 90 patients, genetic abnormalities were detected in 76 (84.4%) cases. TEL-AML1 fusion was the most frequent, present in 26 (28.9%) patients, followed by BCR-ABL1 in 14 (15.6%), E2A-PBX1 in 10 (11.1%), and MLL rearrangements in 8 (8.9%) cases. Overexpression of CRLF2 and IKZF1 deletions were also noted in 12 (13.3%) and 6 (6.7%) patients, respectively. Patients with TEL-AML1 exhibited favorable early treatment response, whereas those with BCR-ABL1 and MLL rearrangements were associated with poorer prognosis and higher relapse rates. Targeted therapy with tyrosine kinase inhibitors showed promising responses in BCR-ABL1 positive patients.
Conclusion: The study demonstrated that genetic and molecular profiling in pediatric ALL provided critical insights into disease biology and therapeutic response. The identification of specific biomarkers such as TEL-AML1 and BCR-ABL1 had significant implications for early diagnosis, risk stratification, and personalized therapy. Incorporating molecular diagnostics into routine clinical practice enhanced treatment precision and improved long-term outcomes in pediatric ALL patients.
Keywords: Pediatric Acute Lymphoblastic Leukemia, Genetic Biomarkers, Molecular Profiling, TEL-AML1, BCR-ABL1, Targeted Therapy, Early Diagnosis, Personalized Medicine.