Orbital venous malformations (OVMs) are the most common benign orbital vascular disorders in adults and are characterized as enlarging encapsulated vascular neoplasms. These painless lesions grow slowly and become symptomatic with proptosis or visual disturbance. However, the pathogenic mechanism and diagnostic markers of OVMs remain poorly understood. To identify potential pathways involved in OVM formation, a cDNA microarray analysis was conducted with OVM samples and normal vascular tissues. These data were deposited in the National Omics Data Encyclopedia (NODE) database (accession number: OER033009). These pathway expression data were further confirmed by reverse transcription qPCR (RT-qPCR) in an OVM cohort. To explore the diagnostic markers in OVM, an angiogenesis antibody array was analyzed. The altered factors were further validated by enzyme-linked immunosorbent assay (ELISA) in the OVM cohort. Transcriptome screening revealed upregulated autophagy and VEGF pathways and downregulated Hippo, Wnt, hedgehog and vascular smooth muscle contraction signaling pathways in OVM samples. Furthermore, plasma EGF (p < 0.001) and Leptin (p < 0.01) levels were significantly elevated in OVM patients. Here, for the first time, we revealed the transcriptional background and plasma diagnostic markers in OVM, providing a novel understanding of OVM pathogenesis and facilitating the early diagnosis of OVM.

中文翻译：

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高通量转录分析与血管生成抗体阵列分析相结合的眼眶静脉畸形队列。

眶静脉畸形（OVM）是成人中最常见的良性眶血管疾病，其特征是囊状血管瘤增大。这些无痛性病变生长缓慢，并伴有眼球突出或视力障碍的症状。但是，对OVM的致病机理和诊断标记仍然知之甚少。为了确定与OVM形成有关的潜在途径，对OVM样品和正常血管组织进行了cDNA微阵列分析。这些数据已存储在国家Omics数据百科全书（NODE）数据库中（登录号：OER033009）。在OVM队列中，通过反转录qPCR（RT-qPCR）进一步证实了这些途径表达数据。为了探索OVM中的诊断标记，分析了血管生成抗体阵列。通过OVM队列中的酶联免疫吸附测定（ELISA）进一步验证了改变的因子。转录组筛选显示OVM样品中的自噬和VEGF通路上调，而Hippo，Wnt，刺猬和血管平滑肌收缩信号通路下调。此外，在OVM患者中血浆EGF（p <0.001）和Leptin（p <0.01）水平显着升高。在这里，我们首次揭示了OVM中的转录背景和血浆诊断标志物，为OVM的发病机理提供了新的认识，并促进了OVM的早期诊断。此外，在OVM患者中血浆EGF（p <0.001）和Leptin（p <0.01）水平显着升高。在这里，我们首次揭示了OVM中的转录背景和血浆诊断标志物，为OVM的发病机理提供了新的认识，并促进了OVM的早期诊断。此外，在OVM患者中血浆EGF（p <0.001）和Leptin（p <0.01）水平显着升高。在这里，我们首次揭示了OVM中的转录背景和血浆诊断标志物，为OVM的发病机理提供了新的认识，并促进了OVM的早期诊断。