Identifying acute myeloid leukemia subtypes based on pathway enrichment

Acute myeloid leukemia (AML) is the most common type of acute leukemia in adults and the second most common in children. Despite the introduction of targeted therapies, AML survival rates have shown limited improvement, particularly among older patients. This study explored personalized treatment st...

Full description

Saved in:
Bibliographic Details
Main Authors: Ling Zhong, Jiangti Luo, Junze Dong, Xiang Yang, Xiaosheng Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Pharmacology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1557112/full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850279073899610112
author Ling Zhong
Ling Zhong
Ling Zhong
Ling Zhong
Jiangti Luo
Jiangti Luo
Jiangti Luo
Jiangti Luo
Junze Dong
Xiang Yang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
author_facet Ling Zhong
Ling Zhong
Ling Zhong
Ling Zhong
Jiangti Luo
Jiangti Luo
Jiangti Luo
Jiangti Luo
Junze Dong
Xiang Yang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
author_sort Ling Zhong
collection DOAJ
description Acute myeloid leukemia (AML) is the most common type of acute leukemia in adults and the second most common in children. Despite the introduction of targeted therapies, AML survival rates have shown limited improvement, particularly among older patients. This study explored personalized treatment strategies for AML by proposing a novel subtyping method. Through unsupervised clustering based on the enrichment scores of 14 pathways related to metabolism, immunity, DNA repair, and oncogenic signaling, we identified three AML subtypes: DNA repair (DR), immune-enriched (ImE), and immune-deprived (ImD), consistent in four independent datasets. DR is marked by high expression of DNA repair and metabolic pathways, high stemness and proliferation potential, as well as high sensitivity to chemotherapy. ImD is characterized by low expression of immune and oncogenic pathways, favorable survival prognosis, low mutation rates of RUNX1 and TP53, high homeostasis, and low migration potential. ImE exhibits high enrichment of immune and oncogenic pathways, low stemness and proliferation capacity, low homeostasis, high migration potential, and low sensitivity to chemotherapy. Our pathway enrichment-based subtyping approach would offer a promising framework for understanding the molecular heterogeneity of AML and guiding personalized treatment of this disease.
format Article
id doaj-art-129faa016c384bb3957f9c5770498e5e
institution OA Journals
issn 1663-9812
language English
publishDate 2025-03-01
publisher Frontiers Media S.A.
record_format Article
series Frontiers in Pharmacology
spelling doaj-art-129faa016c384bb3957f9c5770498e5e2025-08-20T01:49:14ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-03-011610.3389/fphar.2025.15571121557112Identifying acute myeloid leukemia subtypes based on pathway enrichmentLing Zhong0Ling Zhong1Ling Zhong2Ling Zhong3Jiangti Luo4Jiangti Luo5Jiangti Luo6Jiangti Luo7Junze Dong8Xiang Yang9Xiaosheng Wang10Xiaosheng Wang11Xiaosheng Wang12Xiaosheng Wang13Biomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, ChinaIntelligent Pharmacy Interdisciplinary Research Center, China Pharmaceutical University, Nanjing, ChinaBig Data Research Institute, China Pharmaceutical University, Nanjing, ChinaInstitute of Innovative Drug Discovery and Development, China Pharmaceutical University, Nanjing, ChinaBiomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, ChinaIntelligent Pharmacy Interdisciplinary Research Center, China Pharmaceutical University, Nanjing, ChinaBig Data Research Institute, China Pharmaceutical University, Nanjing, ChinaInstitute of Innovative Drug Discovery and Development, China Pharmaceutical University, Nanjing, ChinaNanjing Foreign Language School, Nanjing, ChinaDepartment of Oncology, JunXie Hospital, Nanjing, ChinaBiomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, ChinaIntelligent Pharmacy Interdisciplinary Research Center, China Pharmaceutical University, Nanjing, ChinaBig Data Research Institute, China Pharmaceutical University, Nanjing, ChinaInstitute of Innovative Drug Discovery and Development, China Pharmaceutical University, Nanjing, ChinaAcute myeloid leukemia (AML) is the most common type of acute leukemia in adults and the second most common in children. Despite the introduction of targeted therapies, AML survival rates have shown limited improvement, particularly among older patients. This study explored personalized treatment strategies for AML by proposing a novel subtyping method. Through unsupervised clustering based on the enrichment scores of 14 pathways related to metabolism, immunity, DNA repair, and oncogenic signaling, we identified three AML subtypes: DNA repair (DR), immune-enriched (ImE), and immune-deprived (ImD), consistent in four independent datasets. DR is marked by high expression of DNA repair and metabolic pathways, high stemness and proliferation potential, as well as high sensitivity to chemotherapy. ImD is characterized by low expression of immune and oncogenic pathways, favorable survival prognosis, low mutation rates of RUNX1 and TP53, high homeostasis, and low migration potential. ImE exhibits high enrichment of immune and oncogenic pathways, low stemness and proliferation capacity, low homeostasis, high migration potential, and low sensitivity to chemotherapy. Our pathway enrichment-based subtyping approach would offer a promising framework for understanding the molecular heterogeneity of AML and guiding personalized treatment of this disease.https://www.frontiersin.org/articles/10.3389/fphar.2025.1557112/fullAMLacute myeloid leukemiapathway enrichment analysistranscriptome (RNA-seq)drug sensitivitysubtype
spellingShingle Ling Zhong
Ling Zhong
Ling Zhong
Ling Zhong
Jiangti Luo
Jiangti Luo
Jiangti Luo
Jiangti Luo
Junze Dong
Xiang Yang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
Xiaosheng Wang
Identifying acute myeloid leukemia subtypes based on pathway enrichment
Frontiers in Pharmacology
AML
acute myeloid leukemia
pathway enrichment analysis
transcriptome (RNA-seq)
drug sensitivity
subtype
title Identifying acute myeloid leukemia subtypes based on pathway enrichment
title_full Identifying acute myeloid leukemia subtypes based on pathway enrichment
title_fullStr Identifying acute myeloid leukemia subtypes based on pathway enrichment
title_full_unstemmed Identifying acute myeloid leukemia subtypes based on pathway enrichment
title_short Identifying acute myeloid leukemia subtypes based on pathway enrichment
title_sort identifying acute myeloid leukemia subtypes based on pathway enrichment
topic AML
acute myeloid leukemia
pathway enrichment analysis
transcriptome (RNA-seq)
drug sensitivity
subtype
url https://www.frontiersin.org/articles/10.3389/fphar.2025.1557112/full
work_keys_str_mv AT lingzhong identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT lingzhong identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT lingzhong identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT lingzhong identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT jiangtiluo identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT jiangtiluo identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT jiangtiluo identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT jiangtiluo identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT junzedong identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT xiangyang identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT xiaoshengwang identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT xiaoshengwang identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT xiaoshengwang identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment
AT xiaoshengwang identifyingacutemyeloidleukemiasubtypesbasedonpathwayenrichment