Li Guosheng, Adams Emily, Eshleman James R, Eberhart Charles G
Department of Pathology, First Affiliated Hospital, Dalian Medical University, Dalian, China.
Departments of Pathology.
Ophthalmic Plast Reconstr Surg. 2018 Nov/Dec;34(6):525-527. doi: 10.1097/IOP.0000000000001075.
BRAF V600E mutations were recently identified in some pyogenic granulomas of skin, particularly lesions arising in patients with port wine stains. In this study, the authors analyzed BRAF gene status in 28 periocular pyogenic granulomas to determine its role in their pathogenesis.
Retrospective review of ophthalmic pathology archives from 2007 to 2016 was used to identify pyogenic granulomas of the conjunctiva, eyelid, and orbit. Three eyelid nevi were also analyzed as positive controls. BRAF V600E status was assessed by pyrosequencing of DNA extracted from excess formalin-fixed, paraffin-embedded surgical material.
Microscopic examination of the periocular pyogenic granuloma specimens revealed proliferative vascular lesions, with radiating capillary channels surrounded by variable degrees of acute and chronic inflammation. Sequencing did not identify a BRAF V600E mutation in any of the 28 sporadic pyogenic granulomas, including 13 on the eyelid. In contrast, mutation analyses performed in parallel in melanocytic nevi of the eyelid identified BRAF V600E alterations in all 3 cases.
The lack of BRAF V600E mutations in 28 sporadic pyogenic granulomas of the conjunctiva and eyelid suggests that such alterations are not a common driver in the pathogenesis of these periocular vascular lesions.
最近在一些皮肤化脓性肉芽肿中发现了BRAF V600E突变,尤其是在患有葡萄酒色斑的患者中出现的病变。在本研究中,作者分析了28例眼周化脓性肉芽肿中的BRAF基因状态,以确定其在发病机制中的作用。
回顾性分析2007年至2016年眼科病理档案,以确定结膜、眼睑和眼眶的化脓性肉芽肿。还分析了3例眼睑痣作为阳性对照。通过对从多余的福尔马林固定、石蜡包埋手术材料中提取的DNA进行焦磷酸测序来评估BRAF V600E状态。
对眼周化脓性肉芽肿标本的显微镜检查显示为增生性血管病变,有放射状毛细血管通道,周围有不同程度的急性和慢性炎症。测序未在28例散发性化脓性肉芽肿中发现BRAF V600E突变,包括13例眼睑化脓性肉芽肿。相比之下,对眼睑黑素细胞痣进行的平行突变分析在所有3例中均发现了BRAF V600E改变。
28例结膜和眼睑散发性化脓性肉芽肿中缺乏BRAF V600E突变,表明这种改变不是这些眼周血管病变发病机制中的常见驱动因素。