非典型性和恶性血管球瘤11例临床病理及分子遗传学特征分析  

Analysis of clinicopathological and moleculaRgenetic characteristics of 11 cases with atypical and malignant glomus tumor

作　　者：邓民英 罗荣奎 黄洁 孙琦 罗源龙 张曙[4] 宋琦 徐磊 侯英勇 DENG Minying;LUO Rongkui;HUANG Jie;SUN Qi;LUO Yuanlong;ZHANG Shu;SONG Qi;XU Lei;HOU Yingyong(Department of Pathology,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Pathology,Zhongshan Hospital,Fudan University(Xiamen Branch),Xiamen 361006,China;Department of General Practice,Shanghai University of Traditional Chinese Medicine,Shanghai 200062,China;Department of Pathology,Affiliated Hospital of Nantong University,Nantong 226001,China)

机构地区：[1]复旦大学附属中山医院病理科,上海200032 [2]复旦大学附属中山医院厦门医院病理科,厦门361006 [3]上海中医药大学附属普陀医院全科医疗科,上海200062 [4]南通大学附属医院病理科,南通226001

出　　处：《临床与实验病理学杂志》2023年第8期963-967,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：上海市科技委科研计划(19MC1911000、19441904000)、上海市临床专科建设项目(shslczdzk01302)。

摘　　要：目的探讨非典型性血管球瘤(glomus tumor,GT)和恶性血管球瘤(malignant glomus tumor,MGT)的临床病理学及分子遗传学特征。方法回顾性分析11例GT的临床病理学、免疫表型及分子遗传学特征,行HE、免疫组化染色及分子检测,并复习相关文献。结果男性4例,女性7例,发病年龄16~77岁,中位年龄49岁。肿瘤部位:胃体3例,胃窦、小腿和肺各2例,支气管1例,阴囊1例。肿瘤最大径1~5 cm,中位最大径2.7 cm。10例(91%)为典型固有球瘤,1例为固有球瘤和球血管瘤混合分布。8例呈浸润性生长,3例呈实性片状,4例见瘤栓,1例见神经束侵犯,5例见肿瘤性坏死,4例见梭形细胞区域,1例细胞重度异型,7例核分裂>5个/50 HPF。免疫表型:MSA(10/11)、vimentin(10/11)、Ⅳ型胶原(10/11)、α-SMA(9/11)、h-Caldesmon(9/11)、CD57(9/11)、Calponin(7/11)、BCL-2(6/11)、CD56(3/11)、CD34(3/11)、BRAF V600E(2/11)、desmin(2/11)、Syn(6/11)、S-100(3/11)、INI1(11/11)和广谱CK(1/11)均阳性,CgA、CD117和DOG1均阴性,Ki-67增殖指数为5%~60%。10例随访时间6~89个月,2例分别于术后26、48个月发生肝转移,1例活检后5天因大咯血死亡,另7例无瘤生存。基因检测:2例BRAF V600E突变,1例CTNNB1基因突变,1例KEAP1基因突变。结论非典型性GT和MGT表现为潜在和低度恶性生物学行为,部分形态学指标有鉴别价值。肝转移是常见现象,早期监控转移灶仍有手术切除肿瘤延长患者生存的机会。Purpose To investigate the clinicopathological features and moleculaRgenetic charcateristics of atypical and malignant glomus tumor.Methods The clinicopathological,immunophenotypic and moleculaRgenetic characteristics of 11 cases of glomus tumoRwere retrospectively analyzed.Hematoxylin-Eosin staining,immunohistochemical staining and moleculaRdetection were performed,and relevant literatures were reviewed.Results There were 4 males and 7 females,with the onset age of 16-77 years(median age of 49).Three cases were located in the stomach body,2 in the pylorus,2 in the loweRlegs,2 in the lung,1 in the bronchus,1 in the scrotum.Grossly,the tumoRdiameters ranged 1-5 cm(median diameteR2.7 cm).Microscopically,10 cases(91%)were typical glomus proper,and 1 case was glomus propeRand glomus hemangioma simultaneously.8 cases grew invasively,3 cases with solid sheet-like growth inside the tumor,4 cases with vasculaRinvasion,1 case with neural invasion,5 cases with tumoRnecrosis,4 cases with spindle cell area,and 1 case with cellulaRsevere atypia,7 cases with mitotic figures>5/50 HPF.Immunohistochemically,tumoRcells expressed MSA(10/11),vimentin(10/11),typeⅣCollagen(10/11),α-SMA(9/11),h-Caldesmon(9/11),CD57(9/11),Calponin(7/11),BCL-2(6/11),CD56(3/11),CD34(3/11),BRAF V600E(2/11),desmin(2/11),Syn(6/11),S-100(3/11),INI1(11/11),CKpan(1/11).CgA,CD117 and DOG1 were negative,and the Ki-67 proliferation index ranged 5%-60%.Follow-up information was available in 10 cases foR6-89 months.At the end of the follow-up,2 cases developed liveRmetastases at 26 months and 48 months afteRoperation,and 1 case died of massive hemoptysis 5 days afteRbiopsy.The otheR7 cases were alive without recurrence oRmetastasis.MoleculaRgenetics showed 2 cases had BRAF V600E mutation,CTNNB1 gene mutation in one case,and KEAP1 gene mutation in 1 case.Conclusion Atypical and malignant glomus tumors show potential and low-grade malignant biological behavior,and some morphological indicators are valuable foRidentification.LiveRmetastases are a common phenomenon,a

关 键 词：血管球瘤 非典型性 恶性 分子遗传学 免疫组织化学 

分 类 号：R738.6[医药卫生—肿瘤]