CYP2C19 Genetic Polymorphisms in Children and Young Adults with Cancer: A Cross-sectional Study

Abstract

Background: Inter-individual variation in drug response has long been a concern in the treatment of patients, particularly those with immunosuppressed states who are receiving voriconazole for fungal infections. Objectives: This study aimed to investigate the predominance of genetic polymorphisms in pediatric patients and young adults with malignancies. Methods: This cross-sectional study was conducted between February 2022 and March 2023. Blood samples were collected from patients before the administration of anticancer drugs. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Demographic data and patients’ outcomes were collected from the electronic medical record information system. Chi-square or Fisher’s exact test was applied to assess relations between genotypes and clinical variables. Results: Of the 78 patients enrolled in the study, 74 patients were evaluated for CYP2C19 genotyping. The most common underlying disease was acute lymphoblastic leukemia. Fifty-one percent of the patients were homozygous for the wild type (CYP2C19*1 allele). The frequency of CYP2C19*17 and CYP2C19*3 alleles were 16.2% (12/74) and 1.3% (1/74), respectively. No significant relationship between the type of cancer or patient’s outcome and CYP2C19 tested genotypes was observed. The CYP2C19*17 allele was the predominant allele among the studied patients. Conclusions: The CYP2C19*17 allele was notably prevalent among the patients studied, which may result in rapid (heterozygous genotype) or ultra-rapid (homozygous genotype) metabolizer phenotypes, leading to subtherapeutic drug levels in clinical settings.