摘要
目的探讨颅底原发性近端型上皮样肉瘤（proximal epithelioid sarcoma，PES）的临床特征及病理学特点。方法回顾性分析2008年7月至2017年7月首都医科大学三博脑科医院及昆明三博脑科医院诊治的颅底原发性PES病例4例，总结临床特征、组织病理学特点及荧光原位杂交检测结果。结果4例患者中女性3例，男性1例，年龄46—52岁。病变均原发于颅底，以鞍区受累为主。病理检查可见肿瘤细胞呈上皮样细胞改变，伴或不伴横纹肌样肿瘤细胞；同时表达上皮和间叶标记，不同程度表达CD34，INI-1蛋白表达缺失。其中3例进行荧光原位杂交检测，均提示存在舢（22q11．2）基因位点缺失。3例患者术后3个月内死亡，例4患者目前正处于术后第5个月治疗中。结论颅底原发性PES多发生于鞍区，临床预后差。肿瘤细胞呈上皮样／横纹肌样形态，具有上皮及问叶双向分化特征，常CD34阳性表达，INI1基因缺失及蛋白表达缺失是其特征性分子遗传学改变。
Objective To report the clinical and pathological features of primary proximal epithelioid sarcoma （PES） in skull base. Methods The clinical and pathological features of four cases of PES in skull base from Sanbo Brain Institute of Capital Medical University and Kunming Sanbo Brain Institute were analysed retrospectively. Results Three cases was female, and one male, the age ranged from 46 to 52 years. All cases occurred in skull base, and sellar region was the main site of involvement. Under the microscope, the tumor ceils characterized by epithelioid cell changes, with or without rhabdoid tumor cells. Mitotic figure was active. Immunohistochemical staining showed that AE1/AE3, EMA and CD34 were variously expression in tumor cells. INI-1 protein was lost in all cases. Three cases were detected by FISH, and 1Nll （22q11.2） gene locus was absent in them. Three patients died less than 3 months after surgery, and case 4 was under treatment after five months of surgery. Conclusions Primary PES in skull base mostly occurs in sellar region and its clinical prognosis is poor. It features with epithelioid/rhabdoid tumor ceils with lack granuloma structure as distal ES. It has epithelial and mesenchymal differentiation characteristics. CD34 is always positive. INI1 gene deletion and protein loss expression are characteristic molecular alteration of PES.
作者
段泽君
姚坤
曲彦明
任铭
张永力
齐雪岭
Department of Pathology, Sanbo Brain Insthute, Capital Medical University, Belling 100093, China(Duan ZJ, Yao K, Qi XL ） ; Department of Neurosurgery, Sanbo Brain Institute, Capital Medical University, Beijing 100093, China （ Qu YM, Ren M） ; Department of Neurosurgery, Sanbo Brain Institute, Kunming 650100, China （ Zhang YL)
出处
《中华耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2018年第4期263-269,共7页
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
关键词
肉瘤
颅底肿瘤
Sarcoma
Skull base neoplasms
