loading page

Clinical Significance of TP53, PAX5, and JAK2 gene mutation in Pediatric Acute Lymphoblastic Leukemia
  • +3
  • Hossain Uddin Shekhar,
  • Mohd. Faijanur - Rob Siddiquee,
  • Syeda Jarka Jahir,
  • Fatema Akter,
  • Md. Ismail Hosen,
  • Amirul Morshed Khasru
Hossain Uddin Shekhar
University of Dhaka

Corresponding Author:[email protected]

Author Profile
Mohd. Faijanur - Rob Siddiquee
University of Dhaka
Author Profile
Syeda Jarka Jahir
University of Dhaka
Author Profile
Fatema Akter
University of Dhaka
Author Profile
Md. Ismail Hosen
University of Dhaka
Author Profile
Amirul Morshed Khasru
Dhaka Medical College Hospital
Author Profile

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%. 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.