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骨髓增生异常综合征中常见基因突变与5q-染色体核型突变免疫指标差异分析

Analysis of the differences in immune indexes of common gene mutations and 5q- chromosome karyotype mutations in MDS.

作者信息

Zheng Hanxue, Meng Zilu, Zhang Liansheng, Li Lijuan

机构信息

Department of Hematology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou, 730000, China.

Key Laboratory of the Hematology of Gansu Province, Lanzhou University Second Hospital Lanzhou University, Lanzhou, 730000, China.

出版信息

Discov Oncol. 2025 Jun 9;16(1):1033. doi: 10.1007/s12672-025-02845-0.

DOI:10.1007/s12672-025-02845-0
PMID:40488910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12149050/
Abstract

OBJECTIVE: This study aims to investigate the interaction between common gene and 5q- chromosome karyotype mutations and the immune microenvironment in myelodysplastic syndromes (MDS), and explore the potential prognostic value of immune markers in MDS. METHODS: A total of 83 MDS patients treated at the Second Hospital of Lanzhou University between January 2019 and April 2024 were enrolled in this study. Patients were divided into mutation and wild-type groups based on gene mutations and the presence of 5q- chromosomal abnormalities. Co-mutations in MDS patients were analyzed. A total of 19 fine immune parameters were measured in the samples using flow cytometry and flow cytometric bead array (CBA) technology. Changes in immune markers between the mutation and wild-type groups were observed, and the correlation between lymphocyte subsets and cytokines in the mutation group was analyzed. RESULTS: Significant differences in immune markers were observed between the common gene mutation group and the wild-type group in MDS (P < 0.05). Correlations between lymphocyte subsets and cytokines were identified in ASXL1, RUNX1, SF3B1, TET2, TP53, U2AF1, and 5q- mutation groups. CONCLUSION: This study investigates the correlation between common MDS mutations and cytokine/lymphocyte subpopulations, preliminarily revealing the interaction between genetic factors and immune markers in myelodysplastic syndrome (MDS), and emphasizes the potential important role of the Th17/Treg axis in the tumor immune microenvironment of MDS, but does not verify the mechanism. The study suggests that fine immune parameters have potential prognostic value in MDS and may guide future MDS treatment strategies.

摘要

目的：本研究旨在探讨常见基因突变与5号染色体长臂缺失（5q-）核型突变在骨髓增生异常综合征（MDS）中与免疫微环境的相互作用，并探索免疫标志物在MDS中的潜在预后价值。 方法：本研究纳入了2019年1月至2024年4月在兰州大学第二医院接受治疗的83例MDS患者。根据基因突变和5q-染色体异常情况将患者分为突变组和野生型组。分析MDS患者的共突变情况。使用流式细胞术和流式细胞微球阵列（CBA）技术检测样本中的19项精细免疫参数。观察突变组和野生型组之间免疫标志物的变化，并分析突变组中淋巴细胞亚群与细胞因子之间的相关性。 结果：MDS中常见基因突变组与野生型组之间的免疫标志物存在显著差异（P < 0.05）。在ASXL1、RUNX1、SF3B1、TET2、TP53、U2AF1和5q-突变组中确定了淋巴细胞亚群与细胞因子之间的相关性。 结论：本研究调查了常见MDS突变与细胞因子/淋巴细胞亚群之间的相关性，初步揭示了骨髓增生异常综合征（MDS）中遗传因素与免疫标志物之间的相互作用，并强调了Th17/Treg轴在MDS肿瘤免疫微环境中的潜在重要作用，但未验证其机制。该研究表明精细免疫参数在MDS中具有潜在的预后价值，并可能指导未来的MDS治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/2c34fb236efa/12672_2025_2845_Fig9_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/9c53dd81611d/12672_2025_2845_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/a9d7a5ab0db8/12672_2025_2845_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/2c34fb236efa/12672_2025_2845_Fig9_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/ce6c0d2cd996/12672_2025_2845_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/8ffc8d2815e0/12672_2025_2845_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/0da7f234d3d5/12672_2025_2845_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/789b9e97e01b/12672_2025_2845_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/d5cf2aed002d/12672_2025_2845_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/aa8f63798a31/12672_2025_2845_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/9c53dd81611d/12672_2025_2845_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/a9d7a5ab0db8/12672_2025_2845_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc28/12149050/2c34fb236efa/12672_2025_2845_Fig9_HTML.jpg

相似文献

[1]
Analysis of the differences in immune indexes of common gene mutations and 5q- chromosome karyotype mutations in MDS.

Discov Oncol. 2025-6-9

[2]
[The Correlation of Gene Mutation and Clinical Characteristics in Patients with Myelodysplastic Syndrome and Prognostic Analysis].

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024-2

[3]
Therapeutic Outcomes and Prognostic Impact of Gene Mutations Including TP53 and SF3B1 in Patients with Del(5q) Myelodysplastic Syndromes (MDS).

Clin Lymphoma Myeloma Leuk. 2022-7

[4]
[Features and clinical significance of gene mutations in patients with myelodysplastic syndromes with ring sideroblasts].

Zhonghua Xue Ye Xue Za Zhi. 2020-5-14

[5]
Analyzing Differences in Hematological and Immunological Characteristics Related to Common Gene Mutations in Myelodysplastic Syndromes.

Discov Med. 2024-6

[6]
Association of the type of 5q loss with complex karyotype, clonal evolution, TP53 mutation status, and prognosis in acute myeloid leukemia and myelodysplastic syndrome.

Genes Chromosomes Cancer. 2014-2-3

[7]
The molecular pathogenesis of the myelodysplastic syndromes.

Eur J Haematol. 2015-7

[8]
Prognostic impact of DTA mutation and co-occurring mutations in patients with myelodysplastic syndrome.

Mol Biol Rep. 2024-9-15

[9]
Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome.

Sci Rep. 2020-10-29

[10]
Mutations of myelodysplastic syndromes (MDS): An update.

Mutat Res Rev Mutat Res. 2016-6-23

本文引用的文献

[1]
T cells reinforce NK cell-mediated ADCC.

Blood. 2024-5-2

[2]
T-cell dysfunctions in myelodysplastic syndromes.

Blood. 2024-4-4

[3]
Vaccines: a promising therapy for myelodysplastic syndrome.

J Hematol Oncol. 2024-1-8

[4]
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Annu Rev Pathol. 2024-1-24

[5]
IL-17A functions and the therapeutic use of IL-17A and IL-17RA targeted antibodies for cancer treatment.

Int Immunopharmacol. 2023-10

[6]
The trajectory of prognostication and risk stratification for patients with myelodysplastic syndromes.

Blood. 2023-12-28

[7]
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Am J Hematol. 2023-8

[8]
Hedgehog Signaling Regulates Treg to Th17 Conversion Through Metabolic Rewiring in Breast Cancer.

Cancer Immunol Res. 2023-5-3

[9]
Myelodysplastic syndromes.

Nat Rev Dis Primers. 2022-11-17

[10]
ASXL1/2 mutations and myeloid malignancies.

J Hematol Oncol. 2022-9-6

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