20例恶性横纹肌样瘤临床分析

Clinical analysis of 20 cases of malignant rhabdoid tumor

目的 探讨恶性横纹肌样瘤(malignant rhabdoid tumor,MRT)的临床特征、病理特征及诊治疗效。方法 回顾性分析2017年1月至2023年2月华中科技大学同济医学院附属同济医院20例MRT患者的临床资料,对患者随访并分析其生存数据。结果 20例MRT患者,其中男11例,女9例;发病平均年龄7.1岁。患者均经病理确诊,其中肾外非中枢神经系统横纹肌样瘤(extrarenal extracranial rhabdoid tumor,EERT)6例、肾脏横纹肌样瘤(malignant rhabdoid tumor of the kidney,MRTK)4例、中枢神经系统非典型畸胎样横纹肌样瘤(atypical teratoid rhabdoid tumor,ATRT)10例。临床确诊时肿瘤分期Ⅰ期0例,Ⅱ期1例,Ⅲ期6例,Ⅳ期13例。20例患者均接受手术治疗,术后病理免疫组化提示整合酶相互作用因子1 (integrase interactor 1,INI-1)蛋白表达缺失19例,表达不明确1例;肿瘤组织中上皮细胞膜抗原(epithelial membrane antigen,EMA)、波形蛋白(vimentin)及角蛋白(cyto keratin,CK)阳性表达率为90%。术后患者接受放射治疗(简称放疗)、化学治疗(简称化疗)等综合治疗。随访期内16例患者死亡,其中MRTK 4例、EERT 4例、ATRT 8例;4例患者(2例EERT,2例ATRT)截至2023年3月31日存活。结论 MRT好发于低龄儿童,成人罕见,恶性程度高。其诊断主要依据组织病理检查,INI-1是敏感性及特异性免疫组化指标。治疗手段以手术、化疗及放疗为主,但疗效不佳,生存期短。

Objective To explore the clinical and pathological features of malignant rhabdoid tumor(MRT)and evaluate the treatment outcomes.Methods A retrospective analysis was conducted on clinical data of 20 MRT patients at Tongji Hospital.Comprehensive treatment strategies involving surgery,chemotherapy,and radiation therapy were employed,and patient follow-up was conducted to analyze survival data.Results Among the 20 MRT patients,there were 11 males and 9 females,with an average age of onset at 7.1 years.All patients were diagnosed through histopathological examination,including 6 cases of extrarenal extracranial MRT(EERT),4 cases of renal MRT(MRTK),and 10 cases of atypical teratoid/rhabdoid tumor(ATRT).Clinical staging at diagnosis revealed 0 cases in stage I,1 case in stageⅡ,6 cases in stageⅢ,and 13 cases in stage IV.All 20 patients underwent surgical treatment,with immunohistochemical analysis of postoperative specimens showing loss of INI-1 protein expression in 19 cases and unclear expression in 1 case.The positive expression rates of EMA,Vimentin,and CK in tumor tissue were 90%.Postoperatively,patients received radiation therapy and chemotherapy.During the follow-up period,16 patients died(4 MRTK,4 EERT,8 ATRT),while 4 patients(2 EERT,2 ATRT)were still alive at the latest follow-up(March 31,2023).Conclusions MRT predominantly occurs in young children,with rare cases in adults,and exhibits a high degree of malignancy.Diagnosis relies on histopathological examination,with INI-1 serving as a sensitive and specific immunohistochemical marker.Treatment primarily involves surgery,chemotherapy,and radiation therapy,but the efficacy is limited,resulting in a short survival period.