Clinical Significance of TP53, PAX5, and JAK2 gene mutation in Pediatric
Acute Lymphoblastic Leukemia
Abstract
Background: Pediatric acute lymphoblastic leukemia (ALL) is the most
common childhood cancer worldwide. Developed countries have a 90%
5-year overall survival rate with proper treatment, while LMICs have a
poor rate of around 30-50%. AIM: The research aims to identify
mutations in frequently mutated genes’ hotspot regions to design
appropriate treatment plans based on patients’ somatic makeup. Methods:
Sanger sequencing was conducted on TP53, PAX5, and JAK2 gene hotspot
regions in 60 Patients with ALL diagnosed with acute lymphoblastic
leukemia, categorized into B-ALL and T-ALL subtypes. Results: The exon
mutation rate was 8.33%. The mutation frequency for PAX5 was 5%, while
for TP53, it was 3.33%. New mutations found in TP53 and PAX5 genes
intron region. None of these mutations was found significant to have a
poor prognosis either on the whole cohort or chemotherapy recipient
patients. Among the mutated samples, Chr17:7674089 (A→C) and
Chr17:7674109 (G→A) were found to have a worse prognosis in patients
diagnosed with T-ALL. Chemotherapy treatment response is significant
with p = 0.011, and there was a linkage between chemotherapy response
and the overall mutation in chemotherapy patients (p=0.0013). The TP53
mutation in chemotherapy patients is related to poor survival (p=0.001)
rather than the PAX5 mutation (p=0.087). Conclusion: TP53 gene mutation
is associated with poor chemotherapy response, and subtypes specific
study is required for the precise treatment plan for Bangladeshi
pediatric patients with ALL.