子宫内膜异位症（EMS）是一种具有高度异质性的复杂疾病。最近，单细胞RNA测序（scRNA-seq）已被应用于全面表征细胞异质性。在这里，我们构建了一个新的EMS细胞特征的转录组学概况。共招募了三名确诊为子宫内膜异位症的妇女。在手术过程中，采集了她们新鲜的正位子宫内膜（EM）和异位子宫内膜（EC）组织。采用10x Genomics Chromium进行了单细胞RNA测序。使用细胞类型特异性标记基因，鉴定出了超过十种不同细胞类型的三十个细胞簇。再次进行聚类分析后，发现了五个内皮细胞（ECs）亚型。与EM相比，在EC中肿瘤源性内皮细胞（IGFBP3+）的比例显著增加（43.8%对16.0%）。63个差异表达基因（DEGs）在“血管新生”方面富集，例如EFNB2、DLL4和THSD7A。随后，将114例回顾性EMS病例纳入EFNB2的临床验证研究。EFNB2与PECAM1和IGFBP3共表达，并在EC中明显增加。同时，EFNB2++表达的妇女复发率明显高于EFNB2+病例（p <0.05）。肿瘤源性内皮细胞的显著增加与新血管生成可能是EMS的重要病理特征。此外，EFNB2在EMS复发中发挥重要作用并与之密切相关。版权所有 © 2023. Elsevier Inc. 出版。

Endometriosis (EMS) is a very complex disease with high heterogeneity. Recently, single-cell RNA sequencing (scRNA-seq) has been applied to comprehensively characterize cellular heterogeneity. Here, we built a new transcriptomic profile of EMS cellular signatures.Three women diagnosed with endometriosis were recruited. Their fresh eutopic endometrium (EM) and ectopic endometrium (EC) tissues were sampled during surgery. ScRNA-seq was performed on 10x Genomics Chromium.Thirty cell clusters were identified as more than ten different cell types using cell type-specific marker genes. Re-clustering analysis revealed five subtypes of endothelial cells (ECs). Compared to EM, the proportion of tumor-derived ECs (IGFBP3+) was significantly increased in EC (43.8 vs. 16.0%). 63 differentially expressed genes (DEGs) between tumor-derived ECs and normal ECs were enriched in "angiogenesis", such as EFNB2, DLL4, and THSD7A. Subsequently, 114 retrospective EMS cases were included in clinical validation studies of EFNB2. It was co-expressed with PECAM1 and IGFBP3 and significantly increased in EC. Meanwhile, the recurrence rate of women with EFNB2++ expression was significantly higher than that of EFNB2+ cases (p <0.05).The significant increase in tumor-derived ECs characterized by neovascularization may be an important pathological feature of EMS. In addition, EFNB2 plays an important role and is closely related to the recurrence of EMS.Copyright © 2023. Published by Elsevier Inc.