Comprehensive Analysis of NOTCH1 Mutations in Indian Pediatric ALL Patients: Clinical and Molecular Insights.

ABSTRACT:

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 WB

SUBMITTER: Padmakumar A 

PROVIDER: S-EPMC12905812 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature