散发性静脉畸形发病机制分子研究进展

doi:10.3877/cma.j.issn.2095-5782.2024.03.010

静脉畸形（venous malformation，VM）是一种儿童常见的先天性脉管疾病，其中95%的病例表现为散发性。大多数临床症状表现为蓝色、柔软、可被压缩的低流速或中流速血流的血管性病灶。目前，介入硬化术是常见的治疗方法，而手术切除仅在少数病例中被采用。介入硬化术的疗效与病灶内血流速度，以及病灶范围等密切相关。范围较大、弥漫性病灶的治疗次数会增多，且疗效显著的比例低于孤立性小病灶，术后复发率也较高。对于病灶累及周围正常组织严重的病例，强烈的硬化剂注射治疗可能会对受累组织造成极大的损伤。截至目前，静脉畸形的发病机制尚未完全阐明。为了探索更有效的治疗方式，如分子靶向药物治疗，以取得更好的临床疗效，探索静脉畸形的发病机制具有十分重要的意义。文章将就散发性静脉畸形分子研究的进展进行综述。

关键词: 静脉畸形, 酪氨酸激酶受体2, 血管生成素, 磷脂酰肌醇-3-激酶催化亚基α, UDP-葡萄糖神经酰胺葡萄糖基转移酶

Venous malformation (VM) is a common congenital vascular disorder in children, with approximately 95% of cases presenting as sporadic. Most cases manifest clinically as vascular lesions with blue, soft, and compressible features, indicative of low to medium blood flow velocity. Currently, interventional sclerotherapy is a common therapeutic approach, while surgical excision is employed in only a minority of cases. The efficacy of interventional sclerotherapy is closely associated with factors such as blood flow velocity within the lesion and the extent of the malformation. In cases with larger and diffuse lesions, treatment frequency is increased, and the proportion of significant improvement is lower compared to isolated small lesions, resulting in a higher postoperative recurrence rate. For cases where the malformation extensively involves surrounding normal tissues, the injection of potent sclerosing agents may cause considerable damage to the affected tissues. As of now, the pathogenesis of venous malformations remains incompletely elucidated. Exploring the etiology of venous malformations is of significant importance to uncover more effective treatment modalities, such as molecular targeted therapy, aiming to achieve improved clinical outcomes. This article provides a comprehensive review of the progress in molecular research on sporadic venous malformations.

Key words: VM, TIE2, ANGPT, PIK3CA, UGCG

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Research progress in molecular pathogenesis of sporadic venous malformations

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Research progress in molecular pathogenesis of sporadic venous malformations