球形细胞静脉畸形31例临床病理学分析

Glomuvenous malformation: a clinicopathological analysis of 31 cases

目的:探讨球形细胞静脉畸形(glomuvenous malformation,GVM)临床及病理学特点。方法:收集河南省人民医院2011年1月至2021年12月确诊的GVM共31例,分析GVM的临床及病理学特点,采用免疫组织化学检测相关指标表达情况,并随访患者。结果:31例患者中,男性16例,女性15例,年龄2~52岁,平均年龄11岁,发病部位包括四肢13例(上肢8例,下肢5例)、躯干9例和手足指(趾)端(指甲下)9例,其中27例单发,4例多发。病变表现为无明显诱因发现皮肤表面青紫色丘疹或斑块,缓慢生长并逐渐增大,呈明显肿块样。镜下见病变组织主要累及真皮及皮下组织,边界大多不清;低倍镜下可见散在或簇状不规则扩张静脉样管腔,管壁薄、大小不一;高倍镜下管壁内可见单层或多层较一致的立方形/球形细胞环绕,部分区域细胞增生呈小巢状;部分畸形管腔壁内球形细胞数量少或缺如。免疫组织化学染色结果显示球形细胞强表达平滑肌肌动蛋白、h-caldesmon、Collagen Ⅳ,畸形脉管血管内皮细胞表达CD31、CD34、ERG。获随访12例,术后未见病变复发。结论:GVM是发生于浅表软组织的单纯性静脉畸形的一种少见亚型,与经典血管球瘤明显不同,形态学表现为一层或多层血管球细胞围绕扩张的畸形静脉样管腔生长,可合并普通型静脉畸形。

ObjectiveTo investigate the clinicopathological features of glomuvenous malformation(GVM).MethodsThirty-one cases of GVM diagnosed at the Henan Provincial People′s Hospital from January 2011 to December 2021 were collected.Their clinical and pathological features were analyzed.The expression of relevant markers was examined using immunohistochemistry.The patients were also followed up.ResultsThere were 16 males and 15 females in this study,with an average age of 11 years(range,1-52 years).The locations of the disease included 13 cases in the limbs(8 cases in the upper limbs,5 cases in the lower limbs),9 cases in the trunks,and 9 cases in the foot(toes or subungual area).Twenty-seven of the cases were solitary and 4 were multifocal.The lesions were characterized by blue-purple papules or plaques on the skin surface,which grew slowly.The lumps became larger and appeared to be conspicuous.Microscopically,GVM mainly involved the dermis and subcutaneous tissue,with an overall ill-defined border.There were scattered or clustered irregular dilated vein-like lumens,with thin walls and various sizes.A single or multiple layers of relatively uniform cubic/glomus cells were present at the abnormal wall,with scattered small nests of the glomus cells.The endothelial cells in the wall of abnormal lumen were flat or absent.Immunohistochemistry showed that glomus cells strongly expressed SMA,h-caldesmon,and collagen IV.Malformed vascular endothelial cells expressed CD31,CD34 and ERG.No postoperative recurrence was found in the 12 cases.ConclusionsGVM is an uncommon type of simple venous malformation in the superficial soft tissue and different from the classical glomus tumor.Morphologically,one or more layers of glomus cells grow around the dilated venous malformation-like lumen,which can be combined with common venous malformations.