SMARCB1/INI1缺失的低分化脊索瘤的临床病理特征  

Clinicopathological features of poorly differentiated chordomas with loss of SMARCB1/INI1 expression

作　　者：韩璐 赵莉红[1] 隗立峰[1] 滕梁红[1] 王雷明[1] HAN Lu;ZHAO Lihong;WEI Lifeng;TENG Lianghong;WANG Leiming(Department of Pathology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China;Department of Pathology,Xiong’an Xuanwu Hospital,Xiong’an 070001,China)

机构地区：[1]首都医科大学宣武医院病理科,北京100053 [2]雄安宣武医院病理科,雄安新区070001

出　　处：《临床与实验病理学杂志》2024年第5期480-483,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：北京市科技新星计划(Z201100006820149);北京市医院管理中心临床医学发展专项经费资助(ZYLX202113)。

摘　　要：目的探讨SMARCB1/INI1缺失的低分化脊索瘤(poorly differentiated chordoma,PDC)的临床病理学特征。方法收集10例PDC临床资料,采用免疫组化EnVision两步法检测CK、vimentin、INI1和Brachyury等表达,分析PDC临床病理及预后特征。结果10例中男性5例,女性5例,发病年龄1~7岁(平均发病年龄及中位发病年龄均为4岁);10例发生在斜坡并均有骨质侵犯,其中3例累及颈椎(30%)。肿瘤组织形态上均表现为片状或巢团状生长,肿瘤细胞呈上皮样,细胞核呈圆形或卵圆形,异型性明显,可见核仁,有丝分裂活跃,间质内可见少许淋巴细胞浸润;免疫表型:10例肿瘤细胞均表达CK、vimentin、EMA和Brachyury,SMARCB1/INI1均表达缺失。随访及预后:5例肿瘤复发(中位无进展时间为4个月);7例死亡(中位生存期为5个月)。结论SMARCB1/INI1缺失的PDC相对罕见,预后较差,诊断具有挑战性,认识该肿瘤的临床病理学特征对诊断及治疗具有重要意义。Purpose To investigate the clinical pathology of SMARCB1/INI1-deficient poorly differentiated chordoma.Methods Ten patients with poorly differentiated chordoma were collected.The expression of CK,vimentin,INI1,and Brachyury was detected using EnVision immunohistochemistry.Clinical characteristics,histopathological features,as well as related prognosis were analyzed and the literature was reviewed.Results Among the 10 cases,including 5 males and 5 females,the mean age of onset was 4 years.10 cases were located in the clivus and had bone invasion,3 involved the cervical spine(18.2%).In morphology,tumor cells showed sheet or nest mass growth,with epithelioid tumor cells.The nucleus was round or oval,with obvious atypia and visible nucleoli.Mitotic figures were active.Lymphocytic infiltration was noted in the stroma.Tumor cells in 10 cases were positive for CK,Vimentin,EMA and Brachyury with loss of SMARCB1/INI1 expression.Ten patients were followed-up postoperatively.5 patients had tumor recurrence(median progression-free survival was 4 months)and 7 died(median overall survival was 5 months).Conclusion SMARCB1/INI1-deficient poorly-differentiated chordoma is a relatively rare bone tumor with poor prognosis and challenging diagnosis.Understanding the clinical pathological characteristics of this tumor has great significance for diagnosis and treatment.

关 键 词：脊索瘤 低分化 INI1 SMARCB1 

分 类 号：R739.4[医药卫生—肿瘤] R[医药卫生—临床医学]