Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors

The imatinib (IMA) steady-state trough concentration (Cmin) plays a critical role in the treatment outcomes of patients with gastrointestinal stromal tumors (GISTs), yet the effective concentration range in the Chinese population remains unclear. Additionally, few studies have investigated the effec...

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Main Authors: Menghua Zhang, Zhiyao Chen, Xiaoxue Liu, Xiaojun Zhou, Liyan Miao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Pharmacology
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Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1604619/full
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author Menghua Zhang
Zhiyao Chen
Xiaoxue Liu
Xiaojun Zhou
Liyan Miao
Liyan Miao
Liyan Miao
Liyan Miao
author_facet Menghua Zhang
Zhiyao Chen
Xiaoxue Liu
Xiaojun Zhou
Liyan Miao
Liyan Miao
Liyan Miao
Liyan Miao
author_sort Menghua Zhang
collection DOAJ
description The imatinib (IMA) steady-state trough concentration (Cmin) plays a critical role in the treatment outcomes of patients with gastrointestinal stromal tumors (GISTs), yet the effective concentration range in the Chinese population remains unclear. Additionally, few studies have investigated the effects of N-desmethyl imatinib (NDI) and genetic polymorphisms in metabolic enzymes and transporters on GIST treatment efficacy. Therefore, the aim of this study was to determine the value of the IMA and total (IMA + NDI) Cmin for the prediction of treatment outcomes in advanced GIST patients and to assess the influence of genetic polymorphisms on the IMA and total (IMA + NDI) Cmin and treatment efficacy. Twenty-one IMA-treated patients with advanced GIST were enrolled. An IMA Cmin ≥950 ng/mL and an IMA + NDI Cmin ≥956 ng/mL were associated with a reduced PD risk, with area under the receiver operating characteristic curve (AUC) values of 0.944 and 0.967, respectively. Higher IMA and IMA + NDI Cmin and higher risks of PD were observed in C allele carriers of rs2231137 and A allele carriers of rs2725252 in ABCG2 and in G allele carriers of rs2631372 in SLC22A5. In conclusion, the IMA and IMA + NDI Cmin can serve as effective indicators of advanced GIST treatment outcomes. Drug efficacy should be monitored in patients with an IMA Cmin <950 ng/mL or a total (IMA + NDI) Cmin <956 ng/mL. Furthermore, genetic polymorphism testing is recommended before dosing to appropriately adjust the IMA dose for carriers of the C allele in rs2231137, the A allele in rs2725252 in ABCG2, and the G allele in rs2631372 in SLC22A5.
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spelling doaj-art-cae07d46267a4c0ea8a7ecdc0d60cf472025-08-20T03:07:54ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-05-011610.3389/fphar.2025.16046191604619Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumorsMenghua Zhang0Zhiyao Chen1Xiaoxue Liu2Xiaojun Zhou3Liyan Miao4Liyan Miao5Liyan Miao6Liyan Miao7Department of Pharmacy, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaDepartment of Pharmacy, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaDepartment of Pharmacy, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaDepartment of General Surgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaDepartment of Pharmacy, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaInstitute for Interdisciplinary Drug Research and Translational Sciences, Soochow University, Suzhou, Jiangsu, ChinaCollege of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu, ChinaNational Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, ChinaThe imatinib (IMA) steady-state trough concentration (Cmin) plays a critical role in the treatment outcomes of patients with gastrointestinal stromal tumors (GISTs), yet the effective concentration range in the Chinese population remains unclear. Additionally, few studies have investigated the effects of N-desmethyl imatinib (NDI) and genetic polymorphisms in metabolic enzymes and transporters on GIST treatment efficacy. Therefore, the aim of this study was to determine the value of the IMA and total (IMA + NDI) Cmin for the prediction of treatment outcomes in advanced GIST patients and to assess the influence of genetic polymorphisms on the IMA and total (IMA + NDI) Cmin and treatment efficacy. Twenty-one IMA-treated patients with advanced GIST were enrolled. An IMA Cmin ≥950 ng/mL and an IMA + NDI Cmin ≥956 ng/mL were associated with a reduced PD risk, with area under the receiver operating characteristic curve (AUC) values of 0.944 and 0.967, respectively. Higher IMA and IMA + NDI Cmin and higher risks of PD were observed in C allele carriers of rs2231137 and A allele carriers of rs2725252 in ABCG2 and in G allele carriers of rs2631372 in SLC22A5. In conclusion, the IMA and IMA + NDI Cmin can serve as effective indicators of advanced GIST treatment outcomes. Drug efficacy should be monitored in patients with an IMA Cmin <950 ng/mL or a total (IMA + NDI) Cmin <956 ng/mL. Furthermore, genetic polymorphism testing is recommended before dosing to appropriately adjust the IMA dose for carriers of the C allele in rs2231137, the A allele in rs2725252 in ABCG2, and the G allele in rs2631372 in SLC22A5.https://www.frontiersin.org/articles/10.3389/fphar.2025.1604619/fullgastrointestinal stromal tumorsimatinibN-desmethyl imatinibefficacysteady-state trough concentrationgenetic polymorphisms
spellingShingle Menghua Zhang
Zhiyao Chen
Xiaoxue Liu
Xiaojun Zhou
Liyan Miao
Liyan Miao
Liyan Miao
Liyan Miao
Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
Frontiers in Pharmacology
gastrointestinal stromal tumors
imatinib
N-desmethyl imatinib
efficacy
steady-state trough concentration
genetic polymorphisms
title Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
title_full Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
title_fullStr Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
title_full_unstemmed Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
title_short Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
title_sort study of genetic polymorphisms and steady state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors
topic gastrointestinal stromal tumors
imatinib
N-desmethyl imatinib
efficacy
steady-state trough concentration
genetic polymorphisms
url https://www.frontiersin.org/articles/10.3389/fphar.2025.1604619/full
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