西藏地区藏族人群散发性血管母细胞瘤的临床病理观察  

Clinicopathological charateristics of hemangioblastoma in Tibetan population without von Hippel⁃Lindau disease

作　　者：多布啦 罗含欢[1] 郭平平 霍真[2] Duobula;LUO Han-huan;GUO Ping-ping;HUO Zhen(Department of Pathology,Tibet Autonomous Region People’s Hospital,Lhasa 850000,China;Department of Pathology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China)

机构地区：[1]西藏自治区人民医院病理科,拉萨850000 [2]中国医学科学院北京协和医学院北京协和医院病理科,北京100730

出　　处：《诊断病理学杂志》2022年第1期44-48,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨西藏地区藏族人群非von Hippel⁃Lindau(VHL)病相关的中枢神经系统血管母细胞瘤(HB)的临床病理学特征及免疫组化表型。方法回顾性分析2010⁃01—2020⁃10西藏自治区人民医院病理科存档的全部中枢神经系统HB病例,收集患者临床及病理资料,其中7例为非VHL病相关的中枢神经系统HB。全部7例病例均经GFAP、CD31、CD34、S⁃100、α⁃inhibin、NSE、D2⁃40、TFE3等免疫组化染色。结果7例HB病例,年龄23~56岁,男女比例5∶2,临床表现主要为头痛、头晕和恶心。影像学显示5例为小脑占位,1例为左侧枕叶占位,1例为椎管内占位。显微镜下,4例为网状型,3例为细胞型,1例肿瘤细胞有明显异型性。7例均未见坏死及病理性核分裂象。免疫组化方面,7例HB血管内皮细胞均表达CD31和CD34;间质细胞不同程度表达vimentin、S⁃100、α⁃inhibin、NSE、EGFR、CD56和D2⁃40;3例周边肿瘤组织中可见GFAP阳性的胶质细胞成分;TFE3、Olig⁃2、CD10、EMA、CgA和Syn均为阴性。5例患者有随访资料,术后随访12~46个月,均存活。结论西藏地区中枢神经系统HB占该地区病理送检中枢神经系统肿瘤的3.9%,其中70%为非VHL病相关的病例。经典的影像学表现、组织形态学表现及免疫组化可以帮助诊断及鉴别诊断。免疫组化TFE3没有表达,HB的发生与TFE3基因可能关系不大。经手术切除治疗后患者预后良好。Objective To investigate the clinicopathological features and immunohistochemical phenotype of central nervous system hemangioblastoma(HB)in Tibetan population without von Hippel⁃Lindau(VHL)disease.Methods The clinical and pathological data of all patients with central nervous system HB from 2010 to 2020 in Tibet Autonomous Region People’s Hospital were retrospectively analyzed.Among them,7 cases were non VHL disease.All cases were stained with GFAP,Olig⁃2,CD31,CD34,S⁃100,α⁃inhibin,NSE,D2⁃40,EMA,CD10,TFE3 and Ki⁃67.Results Seven cases of HB,aged 23-56 years,male to female ratio of 5∶2.The clinical manifestations were headache,dizziness and nausea in 5 cases.On imaging findings,there were 5 cases of cerebellar space occupying,1 case of left occipital lobe occupying,and 1 case of intraspinal space occupying.Microscopically,4 cases were reticular type and 3 cases were cellular type,and one tumor cells had atypia.No necrosis or pathological mitosis was found in all 7 cases.Immunohistochemistry showed CD31 and CD34 were positive in vascular endothelial cells;stromal cells expressed vimentin,S⁃100,α⁃inhibin,NSE,EGFR,CD56,and D2⁃40;TFE3,Olig⁃2,CD10,EMA,CgA and Syn were negative in all cases.Five patients were followed up for 12-46 months,and all of them survived.Conclusion Hemangioblastoma in central nervous system accounts for 3.9%of central nervous system tumors in Tibet,and 70%of them are non VHL disease cases.Classical imaging,histomorphological and immunohistochemical findings can help diagnosis and differential diagnosis.There is no expression of TFE3 by immunohistochemistry,which may not be related to the alterations of TFE3 gene.The prognosis is good after surgical resection.

关 键 词：西藏地区 藏族人 血管母细胞瘤 非VHL病 临床病理 免疫组织化学 

分 类 号：R732.2[医药卫生—肿瘤]