Prevalence of TPMT and NUDT15 diplotypes in Mexican children with B-cell acute lymphoblastic leukemia

Approximately 28% of patients carried TPMT and/or NUDT15 variants associated with non-wild-type enzymatic activity, increasing the risk of mercaptopurine-induced myelotoxicity. Preemptive genotyping is essential to reduce toxicity, optimize treatment, and advance precision medicine in this population. Additionally, the two TPMT variants p.G126A and p.D137Y, currently not classified within Clinical Pharmacogenetics Implementation Consortium-defined star alleles, highlight the need for functional validation and potential clinical classification to improve pharmacogenetic interpretation in diverse populations.

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Publication Details

Journal
Pharmacogenetics and Genomics
Published
2026-02-02
DOI
https://doi.org/10.1097/fpc.0000000000000593
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
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article

Prevalence of TPMT and NUDT15 diplotypes in Mexican children with B-cell acute lymphoblastic leukemia

Nuria Citlalli Luna-Silva, Rosana Pelayo-Camacho, Mata-Rocha Minerva, Beatriz Villegas-Torres et al.
Pharmacogenetics and Genomics
Acute Lymphoblastic Leukemia research
article

Prevalence of TPMT and NUDT15 diplotypes in Mexican children with B-cell acute lymphoblastic leukemia

Nuria Citlalli Luna-Silva, Rosana Pelayo-Camacho, Mata-Rocha Minerva, Beatriz Villegas-Torres, Ángel García-Soto, Diana Casique Aguirre, Miguel Ángel Garrido-Hernández, Lena Sarahí Cano-Cuapio, Joaquín García-Solorio, Vincent González-Osnaya, Fernanda Flores-Espino, Juan Manuel Mejía-Aranguré, Luis Leonardo Flores-Lagunes, Irlanda Campos-Pérez, Janet Flores-Lujano, César Alejandro Galván-Díaz, Ma del Rocío Baños-Lara, Alberto Olaya-Vargas, Jun J Yang, Víctor Jesús Sánchez-Martínez, Karol Carrillo-Sanchez, Moises Solano-Cardozo, José Gabriel Peñaloza-Gonzalez, Carolina Molina-Garay, Marco Jiménez-Olivares, Victor Hugo Olivares-Villalpando, Elvia Cristina Mendoza-Caamal, Carmen Alaez-Verson, Juan Carlos Núñez-Enriquez
article en

Abstract

Approximately 28% of patients carried TPMT and/or NUDT15 variants associated with non-wild-type enzymatic activity, increasing the risk of mercaptopurine-induced myelotoxicity. Preemptive genotyping is essential to reduce toxicity, optimize treatment, and advance precision medicine in this population. Additionally, the two TPMT variants p.G126A and p.D137Y, currently not classified within Clinical Pharmacogenetics Implementation Consortium-defined star alleles, highlight the need for functional validation and potential clinical classification to improve pharmacogenetic interpretation in diverse populations.

Pharmacogenetics and Genomics
Universidad Autónoma de Tlaxcala (MX), St. Jude Children's Research Hospital (US), Universidad Popular Autónoma del Estado de Puebla (MX), Mexican Social Security Institute (MX), Centro Médico Nacional La Raza (MX), National Institute of Genomic Medicine (MX), Secretaria de Salud (HN), Centro Medico Nacional Siglo XXI (MX), Instituto Nacional de Pediatria (MX), Instituto de Medicina Genómica (ES), Hospital del Niño (PA), Hospital Juárez de México (MX), Universidad Católica de Culiacán (MX), Benemérita Universidad Autónoma de Puebla (MX), Universidad Nacional Autónoma de México (MX)
Openalex Percentile: Top 69%
Acute Lymphoblastic Leukemia research
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