单细胞测序在子宫内膜异位症中的应用

doi:10.12280/gjfckx.20250401

摘要/Abstract

摘要：

子宫内膜异位症（endometriosis，EMs）是妇科常见的慢性病，其核心病理是子宫内膜组织异位生长，但传统理论难以全面阐释其复杂机制，导致临床面临诊断滞后与治疗效果不佳的困境。单细胞测序技术的应用为揭示EMs的细胞分子机制提供了新视角。该技术通过解析单个细胞的基因组、转录组等多组学信息，解决了传统测序技术中单细胞异质性被均质化的问题。研究发现，在免疫微环境中，腹腔及病灶的免疫细胞亚群的动态变化揭示免疫逃逸与炎症微环境协同作用；纤维化进程则涉及肌成纤维细胞主导细胞外基质沉积，M2型巨噬细胞通过微环境重塑或抑制上皮凋亡加剧纤维化；血管生成异常与肿瘤源性内皮细胞扩增及促血管因子失调有关。此外，EMs与卵巢癌存在分子关联，揭示了卵母细胞成熟障碍和子宫内膜容受性下降导致不孕的机制。新兴的空间转录组技术整合单细胞分辨率与空间定位信息，进一步推动了微环境异质性研究。尽管面临数据复杂性和技术处理的挑战，单细胞测序在高通量优化与多组学整合方面仍具有巨大潜力。随着技术进步，该领域有望突破EMs诊疗瓶颈，加速实现从基础研究到临床精准治疗的转化。

关键词: 子宫内膜异位症, 序列分析, 单细胞分析, 免疫, 纤维化, 血管生成

Abstract:

Endometriosis (EMs) is a common chronic gynecological disease. Its core pathology is the ectopic growth of endometrial tissue, but traditional theories struggle to comprehensively explain its complex mechanisms, resulting in challenges of delayed diagnosis and poor treatment outcomes in clinical practice. The application of single-cell sequencing technology provides a new perspective for revealing the cellular and molecular mechanisms of EMs. By analyzing multi-omics information such as the genome and transcriptome of individual cells, this technology overcomes the problem of homogenization of single-cell heterogeneity in traditional sequencing technologies. Studies have found that in the immune microenvironment, the dynamic changes of immune cell subsets in the abdominal cavity and lesions reveal the synergistic effects of immune escape and the inflammatory microenvironment. The fibrosis process involves the deposition of extracellular matrix dominated by myofibroblasts, and the M2 polarization of macrophages exacerbates fibrosis through microenvironmental remodeling or inhibition of epithelial apoptosis. Abnormal angiogenesis is associated with the expansion of tumor-derived endothelial cell and dysregulation of pro-angiogenic factors. Additionally, there is a molecular association between EMs and ovarian cancer, which reveals the mechanisms of infertility caused by impaired oocyte maturation and decreased endometrial receptivity. The emerging spatial transcriptomics technology, which integrates single-cell resolution with spatial location information, further promotes the study of microenvironmental heterogeneity. Despite facing challenges in data complexity and technical processing, single-cell sequencing still has significant potential in high-throughput optimization and multi-omic integration. With technological advancements, this field is expected to break through the bottlenecks in the diagnosis and treatment of EMs and accelerate the transformation from basic research to precise clinical treatment.

Key words: Endometriosis, Sequence analysis, Single-cell analysis, Immunity, Fibrosis, Angiogenesis

李佳昳, 唐羽霞, 陆幸菲, 袁铭, 林开清. 单细胞测序在子宫内膜异位症中的应用[J]. 国际妇产科学杂志, 2025, 52(5): 521-526.

LI Jia-yi, TANG Yu-xia, LU Xing-fei, YUAN Ming, LIN Kai-qing. Application of Single-Cell Sequencing in Endometriosis[J]. Journal of International Obstetrics and Gynecology, 2025, 52(5): 521-526.

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