Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia

Abstract Background The combination of venetoclax (VEN) with hypomethylating agents (HMAs) has emerged as a new standard treatment for older or unfit patients with acute myeloid leukemia (AML). However, the predictive factors for VEN/HMA efficacy remain unclear. In our study, we performed the first...

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Main Authors: Wenxiu Shu, Qianqian Yang, Donghua He, Yi Li, Jing Le, Qianqian Cai, Hui Dai, Liufei Luo, Bingrong Chen, Yuan Gong, Dian Jin
Format: Article
Language:English
Published: BMC 2025-05-01
Series:European Journal of Medical Research
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Online Access:https://doi.org/10.1186/s40001-025-02637-w
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author Wenxiu Shu
Qianqian Yang
Donghua He
Yi Li
Jing Le
Qianqian Cai
Hui Dai
Liufei Luo
Bingrong Chen
Yuan Gong
Dian Jin
author_facet Wenxiu Shu
Qianqian Yang
Donghua He
Yi Li
Jing Le
Qianqian Cai
Hui Dai
Liufei Luo
Bingrong Chen
Yuan Gong
Dian Jin
author_sort Wenxiu Shu
collection DOAJ
description Abstract Background The combination of venetoclax (VEN) with hypomethylating agents (HMAs) has emerged as a new standard treatment for older or unfit patients with acute myeloid leukemia (AML). However, the predictive factors for VEN/HMA efficacy remain unclear. In our study, we performed the first analysis of the impact of KIT mutations on therapeutic outcomes in newly diagnosed AML patients undergoing VEN/HMA regimens. Methods In this retrospective study, we included 16 KIT-mutant AML patients receiving VEN/HMA (Cohort A), 141 KIT-wild-type AML patients receiving VEN/HMA (Cohort B), and 69 KIT-mutant AML patients receiving intensive chemotherapy (IC) (Cohort C). We compared the differences in therapeutic efficacy among the different cohorts. Furthermore, we conducted multivariate analyses in patients receiving VEN/HMA to identify factors influencing therapeutic outcomes. Results Compared to Cohort B, Cohort A exhibited significantly lower overall response rate (ORR) (18.8% vs. 72.3%, p < 0.001) and measurable residual disease (MRD) negativity rate (18.8% vs. 68.1%, p < 0.001), with a shorter median event-free survival (EFS) (1.9 months vs. 7.8 months, p < 0.001). No significant difference in overall survival (OS) was observed. Among KIT-mutant patients, IC showed superior ORR (78.3% vs. 18.8%, p < 0.001), MRD negativity rate (75.4% vs. 18.8%, p < 0.001), and EFS (12.2 months vs. 1.9 months, p < 0.001) compared to VEN/HMA. No significant difference in OS was observed between the two cohorts. Multivariate analysis confirmed KIT mutations as an independent predictor of lower ORR (OR 0.020, 95% CI 0.002–0.211, p = 0.001) and shorter EFS (HR 6.318, 95% CI 2.659–15.012, p < 0.001). Conclusions Our findings suggest that KIT mutations are associated with poor response and shorter EFS in AML patients treated with VEN/HMA, highlighting the importance of KIT mutation status in risk stratification and treatment selection.
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spelling doaj-art-31a188a0d5da4e4eb7659bf0dc38aaa52025-08-20T02:10:49ZengBMCEuropean Journal of Medical Research2047-783X2025-05-0130111010.1186/s40001-025-02637-wImpact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemiaWenxiu Shu0Qianqian Yang1Donghua He2Yi Li3Jing Le4Qianqian Cai5Hui Dai6Liufei Luo7Bingrong Chen8Yuan Gong9Dian Jin10Department of Hematology, Ningbo Medical Center Lihuili HospitalDepartment of Hematology, Ningbo Medical Center Lihuili HospitalBone Marrow Transplantation Center, The First Affiliated Hospital, Zhejiang University School of MedicineBone Marrow Transplantation Center, The First Affiliated Hospital, Zhejiang University School of MedicineDepartment of Hematology, Ningbo Medical Center Lihuili HospitalDepartment of Hematology, Ningbo Medical Center Lihuili HospitalDepartment of Hematology, Ningbo Medical Center Lihuili HospitalDepartment of Hematology, Ningbo Medical Center Lihuili HospitalDepartment of Hematology, Ningbo Medical Center Lihuili HospitalGuizhou Provincial People’s Hospital, Medical College of Guizhou UniversityDepartment of Hematology, Ningbo Medical Center Lihuili HospitalAbstract Background The combination of venetoclax (VEN) with hypomethylating agents (HMAs) has emerged as a new standard treatment for older or unfit patients with acute myeloid leukemia (AML). However, the predictive factors for VEN/HMA efficacy remain unclear. In our study, we performed the first analysis of the impact of KIT mutations on therapeutic outcomes in newly diagnosed AML patients undergoing VEN/HMA regimens. Methods In this retrospective study, we included 16 KIT-mutant AML patients receiving VEN/HMA (Cohort A), 141 KIT-wild-type AML patients receiving VEN/HMA (Cohort B), and 69 KIT-mutant AML patients receiving intensive chemotherapy (IC) (Cohort C). We compared the differences in therapeutic efficacy among the different cohorts. Furthermore, we conducted multivariate analyses in patients receiving VEN/HMA to identify factors influencing therapeutic outcomes. Results Compared to Cohort B, Cohort A exhibited significantly lower overall response rate (ORR) (18.8% vs. 72.3%, p < 0.001) and measurable residual disease (MRD) negativity rate (18.8% vs. 68.1%, p < 0.001), with a shorter median event-free survival (EFS) (1.9 months vs. 7.8 months, p < 0.001). No significant difference in overall survival (OS) was observed. Among KIT-mutant patients, IC showed superior ORR (78.3% vs. 18.8%, p < 0.001), MRD negativity rate (75.4% vs. 18.8%, p < 0.001), and EFS (12.2 months vs. 1.9 months, p < 0.001) compared to VEN/HMA. No significant difference in OS was observed between the two cohorts. Multivariate analysis confirmed KIT mutations as an independent predictor of lower ORR (OR 0.020, 95% CI 0.002–0.211, p = 0.001) and shorter EFS (HR 6.318, 95% CI 2.659–15.012, p < 0.001). Conclusions Our findings suggest that KIT mutations are associated with poor response and shorter EFS in AML patients treated with VEN/HMA, highlighting the importance of KIT mutation status in risk stratification and treatment selection.https://doi.org/10.1186/s40001-025-02637-wAcute myeloid leukemiaKITVenetoclaxHypomethylating agentsChemotherapyPrognosis
spellingShingle Wenxiu Shu
Qianqian Yang
Donghua He
Yi Li
Jing Le
Qianqian Cai
Hui Dai
Liufei Luo
Bingrong Chen
Yuan Gong
Dian Jin
Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
European Journal of Medical Research
Acute myeloid leukemia
KIT
Venetoclax
Hypomethylating agents
Chemotherapy
Prognosis
title Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
title_full Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
title_fullStr Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
title_full_unstemmed Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
title_short Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
title_sort impact of kit mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia
topic Acute myeloid leukemia
KIT
Venetoclax
Hypomethylating agents
Chemotherapy
Prognosis
url https://doi.org/10.1186/s40001-025-02637-w
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