Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression

BackgroundPrevious studies have shown that autophagy is closely related to the occurrence, development, and treatment resistance of chronic myeloid leukemia (CML) and has dual roles in promoting cell survival and inducing cell death.MethodsWe analyzed autophagy levels in CML samples via transcriptom...

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Main Authors: Fangmin Zhong, Fangyi Yao, Jing Liu, Qun Fang, Xiajing Yu, Bo Huang, Xiaozhong Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1570903/full
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author Fangmin Zhong
Fangyi Yao
Jing Liu
Qun Fang
Xiajing Yu
Bo Huang
Xiaozhong Wang
author_facet Fangmin Zhong
Fangyi Yao
Jing Liu
Qun Fang
Xiajing Yu
Bo Huang
Xiaozhong Wang
author_sort Fangmin Zhong
collection DOAJ
description BackgroundPrevious studies have shown that autophagy is closely related to the occurrence, development, and treatment resistance of chronic myeloid leukemia (CML) and has dual roles in promoting cell survival and inducing cell death.MethodsWe analyzed autophagy levels in CML samples via transcriptome data and evaluated the relationships between autophagy and the immune microenvironment, treatment response, and disease progression. A consensus clustering algorithm was used to identify autophagy-related molecular subtypes. The value of autophagy-related genes (ARGs) in diagnosis and treatment evaluation was analyzed and verified by a variety of machine learning algorithms.ResultsCompared with normal samples, CML samples had significantly lower autophagy scores and more downregulated ARGs. The autophagy score was positively correlated with the activity of immune and signal transduction-related pathways and negatively correlated with proliferation-related pathways. Patients with high autophagy scores had a greater proportion of regulatory T-cell infiltration and greater cytokine–cytokine receptor interaction signaling pathway activity, while patients with low autophagy scores had greater γδT cell infiltration and PD-1 expression. Low autophagy scores are also associated with malignant progression and nonresponse to treatment. The immune landscape and chemotherapy sensitivity significantly differed between the two autophagy-related molecular subtypes. Three diagnostic ARGs (FOXO1, TUSC1, and ATG4A) were identified by support vector machine recursive feature elimination, least absolute shrinkage selection operator, and random forest algorithms, and the combined diagnostic efficiency of the three was further improved. The diagnostic value of the three ARGs was verified by an additional validation cohort and our clinical real-world clinical cohort, and they can also be used for the differential diagnosis of CML from other hematological malignancies.ConclusionOur study revealed that CML samples exhibit decreased autophagy, and autophagy may induce Tregs to undergo immunosuppression through cytokines. Autophagy-related molecular subtypes are helpful for guiding the clinical treatment of CML. The identification of ARGs by a variety of machine learning algorithms has potential clinical application value.
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spelling doaj-art-576f2cbdaeb84d3bb01b12cb2f06433e2025-08-20T02:30:18ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-05-011610.3389/fimmu.2025.15709031570903Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progressionFangmin ZhongFangyi YaoJing LiuQun FangXiajing YuBo HuangXiaozhong WangBackgroundPrevious studies have shown that autophagy is closely related to the occurrence, development, and treatment resistance of chronic myeloid leukemia (CML) and has dual roles in promoting cell survival and inducing cell death.MethodsWe analyzed autophagy levels in CML samples via transcriptome data and evaluated the relationships between autophagy and the immune microenvironment, treatment response, and disease progression. A consensus clustering algorithm was used to identify autophagy-related molecular subtypes. The value of autophagy-related genes (ARGs) in diagnosis and treatment evaluation was analyzed and verified by a variety of machine learning algorithms.ResultsCompared with normal samples, CML samples had significantly lower autophagy scores and more downregulated ARGs. The autophagy score was positively correlated with the activity of immune and signal transduction-related pathways and negatively correlated with proliferation-related pathways. Patients with high autophagy scores had a greater proportion of regulatory T-cell infiltration and greater cytokine–cytokine receptor interaction signaling pathway activity, while patients with low autophagy scores had greater γδT cell infiltration and PD-1 expression. Low autophagy scores are also associated with malignant progression and nonresponse to treatment. The immune landscape and chemotherapy sensitivity significantly differed between the two autophagy-related molecular subtypes. Three diagnostic ARGs (FOXO1, TUSC1, and ATG4A) were identified by support vector machine recursive feature elimination, least absolute shrinkage selection operator, and random forest algorithms, and the combined diagnostic efficiency of the three was further improved. The diagnostic value of the three ARGs was verified by an additional validation cohort and our clinical real-world clinical cohort, and they can also be used for the differential diagnosis of CML from other hematological malignancies.ConclusionOur study revealed that CML samples exhibit decreased autophagy, and autophagy may induce Tregs to undergo immunosuppression through cytokines. Autophagy-related molecular subtypes are helpful for guiding the clinical treatment of CML. The identification of ARGs by a variety of machine learning algorithms has potential clinical application value.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1570903/fullchronic myeloid leukemiaautophagyimmune microenvironmentmolecular subtypesmachine learningdiagnosis
spellingShingle Fangmin Zhong
Fangyi Yao
Jing Liu
Qun Fang
Xiajing Yu
Bo Huang
Xiaozhong Wang
Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
Frontiers in Immunology
chronic myeloid leukemia
autophagy
immune microenvironment
molecular subtypes
machine learning
diagnosis
title Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
title_full Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
title_fullStr Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
title_full_unstemmed Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
title_short Autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
title_sort autophagy crosstalk with the immune microenvironment in chronic myeloid leukemia and serves as a biomarker for diagnosis and progression
topic chronic myeloid leukemia
autophagy
immune microenvironment
molecular subtypes
machine learning
diagnosis
url https://www.frontiersin.org/articles/10.3389/fimmu.2025.1570903/full
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