2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Pharmacogenetic profile for <em>NUDT15</em> and <em>TPMT</em> in a Peruvian population with pediatric acute lymphoblastic leukemia

Pharmacogenetic profile for NUDT15 and TPMT in a Peruvian population with pediatric acute lymphoblastic leukemia

Pdf Summary

This study aimed to determine the pharmacogenetic profile of NUDT15 and TPMT in pediatric patients diagnosed with B-cell acute lymphoblastic leukemia (B-ALL). The enzymes NUDT15 and TPMT are important in thiopurine metabolism, and single nucleotide polymorphisms (SNPs) in these genes can predict the patients' capacity to metabolize thiopurines and potential toxicity. <br /><br />A total of 161 patients with B-ALL were included in the study. Sequencing of 200 pediatric cancer predisposition genes, including NUDT15 and TPMT, was performed on all patients. The patients were classified into three groups: normal metabolizers, intermediate metabolizers, and poor metabolizers, according to the Clinical Pharmacogenetics Implementation Consortium (CPIC).<br /><br />The results showed that 78.26% of patients had a normal NUDT15 metabolizer profile, while 20.5% had an intermediate profile and 1.24% had an indeterminate profile. For TPMT, 80.75% had a normal metabolizer profile, 18.63% had an intermediate profile, and 0.62% had a poor metabolizer profile. <br /><br />Of note, one-third of the patients had a recommendation to start thiopurines with reduced starting doses. The study suggests that further follow-up studies are needed to evaluate the clinical impact of the pharmacogenetic profile in Peruvian children with B-ALL. <br /><br />In conclusion, this study provides insight into the pharmacogenetic profiles of NUDT15 and TPMT in pediatric patients with B-ALL in Peru. It highlights the importance of determining the patients' genetic characteristics to personalize their treatment with thiopurines and reduce the risk of toxicity.

Asset Subtitle

Presenting Author - Jeny Bazalar-Montoya, MD; Co-Author - Richard S. Rodriguez, MD;

Meta Tag

Pharmacogenomics

Polymorphism

Population Genetics

Co-Author Richard S. Rodriguez, MD

Presenting Author Jeny Bazalar-Montoya, MD

Keywords

pharmacogenetic profile

NUDT15

TPMT

pediatric patients

B-cell acute lymphoblastic leukemia

thiopurine metabolism

single nucleotide polymorphisms

metabolize thiopurines

sequencing

personalize treatment