ArticleIndian journal of medical and paediatric oncology : official journal of Indian Society of Medical & Paediatric Oncology
Clinical implication of thiopurine methyltransferase polymorphism in children with acute lymphoblastic leukemia: A preliminary Egyptian study.
Article in Indian journal of medical and paediatric oncology : official journal of Indian Society of Medical & Paediatric Oncology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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- Article
- Utilizing a user-centered approach to develop and assess pharmacogenomic clinical decision support for thiopurine methyltransferase.BMC medical informatics and decision making · 2019Article
- Susceptibility to thiopurine toxicity byColombia medica (Cali, Colombia)Observational
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4 authors at 1 institution in 1 country.
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Abstract
background6-mercaptopurine (6-MP) is an essential component of pediatric acute lymphoblastic leukemia (ALL) maintenance therapy. Individual variability in this drug-related toxicity could be attributed in part to genetic polymorphism thiopurine methyltransferase (TPMT).
aimTo investigate the frequency of common TPMT polymorphisms in a cohort of Egyptian children with ALL and the possible relation between these polymorphisms and 6-MP with short-term complications. MATERIALS AND
methodsThis study included 25 children. Data related to 6-MP toxicity during the maintenance phase were collected from the patients' files. DNA was isolated and genotyping for TPMT G460A, and A719G mutations were performed by polymerase chain reaction-restriction fragment length polymorphism.
resultsTwenty (80%) of the included 25 patients had a polymorphic TPMT allele. TPMT*3A was the most frequent (14/25, 56%), 8 patients were homozygous and 6 were heterozygous. TPMT*3C mutant allele was found in 4 patients (16%) in the heterozygous state while 2 patients (8%) were found to be heterozygous for TPMT*3B mutant allele. TPMT mutant patients, especially homozygous, were at greater risk of 6-MP hematological toxicity without significant difference regarding hepatic toxicity.
conclusionsTPMT polymorphism was common among the studied group and was associated with increased risk of drug toxicity. A population-based multi-center study is required to confirm our results.
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