SRF易位富于细胞性血管周肌样肿瘤2例临床病理学分析  

SRF-rearranged cellular perivascular myoid tumor:a clinicopathological analysis of two cases

作　　者：印唐臣 邵梦圆 孙蒙 赵露 刘绮颖 姚茜岚 柏乾明 喻林 周晓燕 王坚 Yin Tangchen;Shao Mengyuan;Sun Meng;Zhao Lu;Lao I Weng;Yao Qianlan;Bai Qianming;Yu Lin;Zhou Xiaoyan;Wang Jian(Department of Pathology,Fudan University Shanghai Cancer Center Department of Oncology,Shanghai Medical College,Fudan University Institute of Pathology,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属肿瘤医院病理科,复旦大学上海医学院肿瘤学系,复旦大学病理研究所,上海200032

出　　处：《中华病理学杂志》2024年第1期64-70,共7页Chinese Journal of Pathology

基　　金：上海市自然科学基金(18ZR1407300);上海市临床重点专科建设项目—病理科(shslczdzk01301)。

摘　　要：目的:探讨SRF易位富于细胞性血管周肌样肿瘤的临床病理学特征、免疫表型、诊断及鉴别诊断。方法:收集复旦大学附属肿瘤医院病理科2021年10月至2022年3月诊断的2例SRF易位富于细胞性血管周肌样肿瘤病例,分析其临床病理学资料,行免疫组织化学染色、荧光原位杂交(FISH)和二代测序,并复习相关文献。结果:例1,患儿男,3个月,头皮皮下无痛性肿块,直径约2 cm。例2,患儿女,3岁,膝关节处无痛性肿物,直径约1.5 cm。镜下观察,肿瘤边界清楚,呈多结节状生长;主要由长条束状或交叉束状排列梭形细胞组成,间质中可见裂隙状或分支状扩张的薄壁血管,局部形成血管外皮瘤样结构。瘤细胞丰富,但无明显异型性,可见核分裂象(3~4个/10 HPF)。2例均表达h-caldesmon和平滑肌肌动蛋白;例1结蛋白弥漫强阳性,局灶表达广谱细胞角蛋白;Ki-67阳性指数分别为20%和30%。FISH检测显示例1存在NCOA2基因易位,例2存在RELA基因易位。二代测序检测显示例1存在SRF-NCOA2基因融合,例2存在SRF-RELA基因融合。2例均行局部肿块切除,随访5~14个月,例1无局部复发,例2术后1年发生局部复发。结论:SRF易位富于细胞性血管周肌样肿瘤是血管周细胞肿瘤的一种新变异型,好发于儿童和青少年,其形成从血管周细胞肿瘤至肌样肿瘤及混杂性血管周-肌样肿瘤的广泛形态学谱系。因瘤细胞丰富,可见活跃的核分裂象,且呈平滑肌样免疫表型,容易误诊为肌源性肉瘤。该肿瘤大多为良性,少数可复发。Objective To investigate the clinicopathological features,immunophenotype,diagnosis and differential diagnosis of SRF-rearranged cellular perivascular myoid tumor.Methods Two cases of SRF-rearranged cellular perivascular myoid tumor diagnosed in the Department of Pathology,Fudan University Shanghai Cancer Center from October 2021 to March 2022 were collected.Immunohistochemical staining,fluorescence in-situ hybridization(FISH)and next-generation sequencing(NGS)were performed,and the literature was reviewed.Results Case 1,a 3-month-old boy presented with a painless tumor of the scalp,measuring about 2 cm in diameter.Case 2,a 3-year-old girl complained with a painless tumor of the knee,measuring approximately 1.5 cm in diameter.Microscopically,the tumor had a clear boundary and showed multinodular growth.The tumor was mainly composed of spindle cells arranged in long intersecting fascicles associated with thin,slit-like or branching ectatic vessels,focally forming hemangiopericytoma-like appearance.The tumor cells were abundant,but there was no obvious atypia.Mitotic figures(3-4/10 HPF)were noted.H-caldesmon and SMA were positive in both cases.Case 1 showed diffuse and strong positivity for Desmin,and focally for CKpan.Ki-67 proliferation index was 20%and 30%,respectively.FISH displayed NCOA2 gene translocation in case 1 and the RELA gene translocation in case 2.NGS detected the SRF-NCOA2 gene fusion in case 1 and the SRF-RELA gene fusion in case 2.Both patients underwent local excisions.During the follow-up of 5-14 months,case 1 had no local recurrence,while case 2 developed local recurrence 1 year post operatively.Conclusions SRF-rearranged cellular perivascular myoid tumor is a novel variant of perivascular cell tumor,which tends to occur in children and adolescents.The tumor forms a broad morphologic spectrum ranging from a pericytic pattern to a myoid pattern,and include hybrid tumors with a mixture of pericytic and myoid patterns.Due to its diffuse hypercellularity and increased mitotic figures and smooth mus

关 键 词：软组织肿瘤 基因 血管周细胞肿瘤 

分 类 号：R732.2[医药卫生—肿瘤]