West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter. Asian Pacific Journal of Cancer Prevention 1513-7368 26 10 2025 10 01 Comprehensive Analysis of NOTCH1 Mutations in Indian Pediatric ALL Patients: Clinical and Molecular Insights 3711 3717 91888 10.31557/APJCP.2025.26.10.3711 EN Amritha Padmakumar Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Priyakumari Thankamony Division of Pediatric Oncology, Regional Cancer Centre, Thiruvananthapuram, India. Preethi Gopinath Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Vineetha Radhakrishnan Chandraprabha Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Akhila Raj Thampirajan Vimala Devi Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Geetha Raj John Anitha Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Mahitha Mohanan Sreelatha Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Devipriya Padmakumar Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Jagathnath Krishna Kumarapillai Mohanan Nair Division of Cancer Epidemiology and Biostatistics, Regional Cancer Centre, Thiruvananthapuram, India. Suraj Lathika Surendran Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. Hariharan Sreedharan Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, University of Kerala, India. 0000-0002-6562-3044 Journal Article 2025 03 31 Background: Acute Lymphoblastic Leukemia (ALL) is a prevalent childhood malignancy characterized by abnormal lymphoid cell proliferation. Despite treatment advancements, relapse remains problematic, necessitating improved prognostic markers. NOTCH1 mutations, particularly in T-cell ALL (T-ALL), have been implicated in ALL pathogenesis. Methods: We examined the correlation between NOTCH1 mutations and clinical characteristics in 185 Indian pediatric ALL patients. NOTCH1 mutations were detected using PCR and sequencing, with subsequent analysis of clinical parameters and outcomes. Results: Twenty-four cases exhibited NOTCH1 mutations, primarily in the PEST domain, with a higher frequency in B-cell ALL (B-ALL) than in T-ALL. Specific clinical features, including elevated WBC counts and LDH levels, were associated with NOTCH1 mutations. Survival analysis suggested potential prognostic implications of NOTCH1 mutations in B-ALL but not in T-ALL. Integrating NOTCH1 mutation status with minimal residual disease levels post-induction therapy may aid in identifying high-risk patients. Conclusions: Our findings underscore the heterogeneous nature of ALL and advocate for personalized therapy guided by molecular markers. Further research is essential to elucidate the role of NOTCH1 mutations in ALL prognosis and treatment response. https://journal.waocp.org/article_91888_d0fb5505cfdf94f7dfceb39083eb8556.pdf