Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning

Abstract Background Acute Myeloid Leukemia (AML) is a highly heterogeneous hematologic malignancy influenced by various factors affecting prognosis. Recently, the role of coagulation-related genes in tumor biology has garnered increasing attention. This study aims to investigate the expression patte...

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Main Authors: Liyun Ji, Yanxia Yang, Siyue Ma
Format: Article
Language:English
Published: BMC 2025-08-01
Series:European Journal of Medical Research
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Online Access:https://doi.org/10.1186/s40001-025-02975-9
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author Liyun Ji
Yanxia Yang
Siyue Ma
author_facet Liyun Ji
Yanxia Yang
Siyue Ma
author_sort Liyun Ji
collection DOAJ
description Abstract Background Acute Myeloid Leukemia (AML) is a highly heterogeneous hematologic malignancy influenced by various factors affecting prognosis. Recently, the role of coagulation-related genes in tumor biology has garnered increasing attention. This study aims to investigate the expression patterns of coagulation-related genes in AML and their clinical relevance. Methods We obtained RNA-seq data and clinical information for AML patients from The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO), followed by data cleaning and normalization. Unsupervised consensus clustering was performed to identify molecular subtypes, and Kaplan–Meier survival analysis was utilized to assess survival differences. We further identified differentially expressed genes (DEGs) between groups and conducted functional enrichment analyses. Additionally, a prognostic model was constructed using machine learning techniques, and its prognostic ability was validated. Results Clustering analysis categorized 151 tumor samples into the high coagulation-related gene expression group (C1, high-expression) and the low coagulation-related gene expression group (C2, low-expression), revealing 1,747 DEGs. Functional enrichment analysis indicated that DEGs were mainly associated with leukocyte migration and cytokine signaling pathways. Immune landscape analysis showed that the high expression group had elevated immune and stromal scores, distinct immune cell infiltration patterns, and a higher ESTIMATE score. The constructed coagulation score risk model indicated that age, cytogenetics, and risk scores were significantly associated with AML prognosis. Furthermore, intersection analysis using three machine learning methods identified MMP7 and F12 as key biomarkers. Conclusion Our study demonstrates that coagulation-related genes play a crucial role in the molecular characteristics, prognostic assessment, and immune modulation in AML. MMP7 and F12 are highlighted as potential biomarkers that could aid in optimizing the diagnosis and treatment strategies for AML. These findings offer new insights into personalized therapies for AML.
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spelling doaj-art-37b3b2bfa8d447c1938ad87c8e9e792d2025-08-20T03:42:30ZengBMCEuropean Journal of Medical Research2047-783X2025-08-0130111510.1186/s40001-025-02975-9Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learningLiyun Ji0Yanxia Yang1Siyue Ma2Department of Hematology, The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer HospitalDepartment of Hematology, The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer HospitalDepartment of General Surgery, The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer HospitalAbstract Background Acute Myeloid Leukemia (AML) is a highly heterogeneous hematologic malignancy influenced by various factors affecting prognosis. Recently, the role of coagulation-related genes in tumor biology has garnered increasing attention. This study aims to investigate the expression patterns of coagulation-related genes in AML and their clinical relevance. Methods We obtained RNA-seq data and clinical information for AML patients from The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO), followed by data cleaning and normalization. Unsupervised consensus clustering was performed to identify molecular subtypes, and Kaplan–Meier survival analysis was utilized to assess survival differences. We further identified differentially expressed genes (DEGs) between groups and conducted functional enrichment analyses. Additionally, a prognostic model was constructed using machine learning techniques, and its prognostic ability was validated. Results Clustering analysis categorized 151 tumor samples into the high coagulation-related gene expression group (C1, high-expression) and the low coagulation-related gene expression group (C2, low-expression), revealing 1,747 DEGs. Functional enrichment analysis indicated that DEGs were mainly associated with leukocyte migration and cytokine signaling pathways. Immune landscape analysis showed that the high expression group had elevated immune and stromal scores, distinct immune cell infiltration patterns, and a higher ESTIMATE score. The constructed coagulation score risk model indicated that age, cytogenetics, and risk scores were significantly associated with AML prognosis. Furthermore, intersection analysis using three machine learning methods identified MMP7 and F12 as key biomarkers. Conclusion Our study demonstrates that coagulation-related genes play a crucial role in the molecular characteristics, prognostic assessment, and immune modulation in AML. MMP7 and F12 are highlighted as potential biomarkers that could aid in optimizing the diagnosis and treatment strategies for AML. These findings offer new insights into personalized therapies for AML.https://doi.org/10.1186/s40001-025-02975-9Acute Myeloid LeukemiaCoagulationConsensus Clustering AnalysisPrognostic ModelImmune Microenvironment
spellingShingle Liyun Ji
Yanxia Yang
Siyue Ma
Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
European Journal of Medical Research
Acute Myeloid Leukemia
Coagulation
Consensus Clustering Analysis
Prognostic Model
Immune Microenvironment
title Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
title_full Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
title_fullStr Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
title_full_unstemmed Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
title_short Unveiling the role of coagulation-related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
title_sort unveiling the role of coagulation related genes in acute myeloid leukemia prognosis and immune microenvironment through machine learning
topic Acute Myeloid Leukemia
Coagulation
Consensus Clustering Analysis
Prognostic Model
Immune Microenvironment
url https://doi.org/10.1186/s40001-025-02975-9
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