Xu X L, Liu J G, Sun M, Yu L, Liu Q Y, Bai Q M, Wu L J, Wang J
Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University and Shanghai Respiratory Research Institute, Shanghai 200032, China.
Zhonghua Bing Li Xue Za Zhi. 2018 Aug 8;47(8):616-621. doi: 10.3760/cma.j.issn.0529-5807.2018.08.009.
To investigate the clinicopathologic and genetic features, pathologic diagnosis and differential diagnosis of angiofibroma of soft tissue(AFST). The clinicopathologic characteristics of 24 cases diagnosed at Fudan University Shanghai Cancer Center from 2011 to 2017 were analyzed; immunohistochemical staining and interphase fluorescence in situ hybridization (FISH) were performed, and the literatures were also reviewed. There were 15 male and 9 female (male∶female=1.7∶1.0) patients with age of onset ranging from 8 to 68 years (mean, 45 years). Fourteen cases occurred in extremities, including upper limbs (=3) and lower limbs (=11); seven cases were in the trunk, and 1 case each was in the temporal region, retroperitoneum and liver, respectively. Clinically, the tumors usually presented as a slowly growing painless mass. Tumor sizes ranged from 0.8 to 14 cm (mean 4.6 cm). Microscopically, most lesions were well-circumscribed, with fibrous capsules. Few cases infiltrated the surrounding fibrofatty tissue focally. The tumors were mainly composed of sparse short spindle cells and numerous small, branching, thin-walled blood vessels distributed in amyxoid, fibromyxoid or collagenous matrix, often accompanied by medium-sized, round or irregular and ecstatic vessels at the tumor periphery.By immunohistochemistry, all tested cases expressed vimentin (5/5), and showed variable positivity for EMA (2/4), ER (1/2), PR (2/3), α-SMA (1/18)and desmin (1/10). Ki-67 proliferation index were all less than 5%. CD34, CD31 and ERG staining clearly outlined the contours of blood vessels in the stroma. Four cases were tested for NCOA2 gene rearrangement by FISH, of which three were positive. Follow-up data was available in 17 patients (range, 3 to 69 months; mean, 30 months) were all free of disease. Soft tissue angiofibroma is a benign fibroblastic neoplasm characterized by a prominent and complex vasculature set in a myxoid-to-collagenous stroma, and cytogenetically a distinctive NCOA2 gene rearrangement. Caution should be exercised for the possibility of potentially misinterpretation of AFST as vascular tumors and other myxoid soft tissue tumors.
探讨软组织血管纤维瘤（AFST）的临床病理及遗传学特征、病理诊断及鉴别诊断。分析2011年至2017年在复旦大学附属肿瘤医院确诊的24例AFST的临床病理特征；进行免疫组织化学染色及间期荧光原位杂交（FISH）检测，并复习相关文献。患者15例男性，9例女性（男∶女 = 1.7∶1.0），发病年龄8～68岁（平均45岁）。14例发生于四肢，其中上肢3例，下肢11例；7例位于躯干，颞部、腹膜后及肝脏各1例。临床上，肿瘤通常表现为缓慢生长的无痛性肿块。肿瘤大小为0.8～14 cm（平均4.6 cm）。镜下，多数病变边界清晰，有纤维性包膜。少数病例局灶性浸润周围纤维脂肪组织。肿瘤主要由稀疏的短梭形细胞和众多细小、分支状、薄壁血管组成，分布于黏液样、纤维黏液样或胶原基质中，肿瘤周边常伴有中等大小、圆形或不规则且扩张的血管。免疫组织化学检测显示，所有检测病例均表达波形蛋白（5/5），部分病例EMA（2/4）、ER（1/2）、PR（2/3）、α-SMA（1/18）及结蛋白（1/10）呈不同程度阳性。Ki-67增殖指数均小于5%。CD34、CD31及ERG染色清晰勾勒出间质血管轮廓。4例进行FISH检测NCOA2基因重排，其中3例阳性。17例患者有随访资料（随访时间3～69个月，平均30个月），均无疾病复发。软组织血管纤维瘤是一种良性成纤维细胞性肿瘤，其特征为黏液样至胶原基质中显著且复杂的脉管系统，细胞遗传学上有独特的NCOA2基因重排。应注意AFST可能被误诊为血管肿瘤及其他黏液样软组织肿瘤。
