Validation of diagnostic screening test for pharmacogenomic targets for thiopurine drugs in indian pediatric acute lymphoblastic leukemia patients.

ABSTRACT:

Background

Thiopurines such as 6-mercaptopurine (6-MP) are central to maintenance therapy for pediatric acute lymphoblastic leukemia (ALL), yet their narrow therapeutic index frequently causes dose-limiting myelosuppression in genetically susceptible patients. Variants in NUDT15 and TPMT are major pharmacogenetic determinants of thiopurine intolerance, particularly in Asian populations. Despite CPIC recommendations for pre-emptive genotyping, routine pharmacogenetic testing is seldom implemented in India due to high costs and limited access to sequencing-based platforms.

Aim

To develop, standardize, and validate a rapid, low-cost tetra-primer ARMS-PCR assay for simultaneous detection of the most clinically relevant variants-NUDT15 c.415C>T and TPMT 3C

SUBMITTER: Joseph GT 

PROVIDER: S-EPMC12722899 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature