血管瘤和脉管畸形的遗传学研究进展

Progress in the genetics research of infantile hemangioma and vascular malformations

血管瘤和脉管畸形的病因和发病机制至今不清,在治疗方面仍然面临许多挑战。本文着重介绍了常见的血管肿瘤(如婴幼儿血管瘤、先天性血管瘤和化脓性肉芽肿)和脉管异常(如散发性静脉畸形、蓝色橡皮疱痣综合征、遗传性皮肤黏膜静脉畸形、球形细胞静脉畸形、疣状静脉畸形、淋巴管畸形、动静脉畸形)的病因和遗传机制,以及一些确定的突变基因。回顾文献发现内皮细胞(endothelial cell,EC)内信号通路中关键蛋白的几个突变在脉管异常的发病中起着主要作用,其中最常见突变为PIK3CA和G蛋白偶联受体。因此,笔者认为检测遗传性或体细胞基因突变,对于阐明脉管性疾病潜在的分子机制和研发有效的治疗手段具有重要意义。

The etiology and pathogenesis of hemangiomas and vascular malformations are still unclear and face many challenges in terms of treatment.This article focuses on the etiology and genetic mechanism of common vascular tumors(such as infantile hemangiomas,congenital hemangioma and pyogenic granuloma)and vascular abnormalities(such as sporadic venous malformations,blue rubber bleb nevus syndrome,hereditary cutaneomucosal venous malforma tions,glomuvenous malformations,verrucous venous malformations,lymphatic malformations,and arteriovenous malfor mations).Some gene mutations have been identified and established.Several mutations in key proteins in the signaling pathways of endothelial cells(ECs)have been shown to play a major role in the pathogenesis of vascular abnormalities.Mutations in PIK3CA and G protein coupled receptors were most frequently identified.The detection of genetic or so matic gene mutations is important for elucidating the underlying molecular mechanisms and developing effective thera peutic approaches.