儿童肾外恶性横纹肌样瘤临床病理学分析  

Extrarenal malignant rhabdoid tumor of childhood：a clinicopathologic analysis of 8 cases

作　　者：王晗[1] 马阳阳[1] 李佳恒[3] 张大文 吴宝玉 房成 陈莲[1] 

机构地区：[1]复旦大学附属儿科医院病理科,上海201102 [2]江苏省徐州市儿童医院病理科 [3]江苏省徐州市中心医院检验科

出　　处：《中华病理学杂志》2014年第12期805-808,共4页Chinese Journal of Pathology

基　　金：复旦大学附属儿科医院国家临床重点专科资助项目

摘　　要：目的：探讨儿童肾外恶性横纹肌样瘤（ E－MRT）的临床病理学特征、诊断和鉴别诊断。方法回顾性复习8例儿童E－MRT的临床资料、光镜形态和免疫学表型，并分析预后。结果男4例，女4例，平均年龄为2．6岁，中位年龄为3岁；肿瘤发生于四肢（1例）、头颈部（2例）、躯干（2例）、颈髓（1例）、肝脏（1例）和腹膜后（1例）；镜下示均匀一致的上皮样大细胞，细胞呈多角形，胞质丰富嗜酸性，核偏位并呈空泡状，核仁巨大，核旁胞质内见透明包涵体，形态似横纹肌细胞。肿瘤细胞呈片状或小梁状分布，细胞异型性明显，可见较多核分裂象，多数病例可见局灶性坏死和出血；免疫组织化学检测显示瘤细胞表达波形蛋白、上皮细胞膜抗原、AE1／AE3和CAM5．2，特征性地不表达INI1；随访8例中5例1年内死亡，其余3例分别随访1、3、7个月，目前仍在接受进一步治疗。结论E－MRT是一种罕见的、好发于儿童的高度恶性肿瘤，易发生复发和转移，5年生存率低，典型的临床病理特征和独特的免疫表型可早期明确诊断、避免误诊，有助于进一步治疗。Objective To study the clinicopathologic characteristics of extrarenal malignant rhabdoid tumor （ E-MRT） with emphasis on diagnosis and differential diagnosis.Methods The clinical and pathologic data of 8 E-MRT cases were reviewed.The outcome was analyzed.Results There were four males and four females.The age at presentation ranged from 3 days to 8 years （ mean, 2.6 years;median, 3 years）.The tumors were located in the extremities （n=1）, head and neck （n=2）, trunk （n=2）, cervical cord （n =1）, liver （n =1） and retroperitoneum （n =1） .Histologically, the tumors were composed of a diffuse proliferation of rounded or polygonal cells with eccentric nuclei, prominent nucleoli, and glassy eosinophilic cytoplasm containing hyaline-like inclusion bodies, arranged in sheets and nests. Cellular atypia was easily observed and mitotic activity was high.Necrotic and hemorrhagic areas were abundant.On immunohistochemistry, the tumor cells expressed vimentin and epithelial marker such as EMA, AE1/AE3, and CAM5.2. The absence of INI1 protein expression was a distinctive feature. Follow-up of all eight cases revealed five deaths in one year and the other three were disease-free at last follow-up of one month, three months and seven months.Conclusions E-MRT is a rare and highly aggressive tumor of infancy and childhood.Recurrence and distant metastasis was common and the 5-year survival rate is low.Increased awareness of the clinocopathologic features and immunophenotypes of E-MRT is helpful for correct diagnosis and effective treatment.

关 键 词：儿童 软组织肿瘤 诊断 鉴别 

分 类 号：R738.7[医药卫生—肿瘤]