CAJ | 학술논문

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。
목적：탐토인동신외악성횡문기양류（ E－MRT）적림상병이학특정、진단화감별진단。방법회고성복습8례인동E－MRT적림상자료、광경형태화면역학표형，병분석예후。결과남4례，녀4례，평균년령위2．6세，중위년령위3세；종류발생우사지（1례）、두경부（2례）、구간（2례）、경수（1례）、간장（1례）화복막후（1례）；경하시균균일치적상피양대세포，세포정다각형，포질봉부기산성，핵편위병정공포상，핵인거대，핵방포질내견투명포함체，형태사횡문기세포。종류세포정편상혹소량상분포，세포이형성명현，가견교다핵분렬상，다수병례가견국조성배사화출혈；면역조직화학검측현시류세포표체파형단백、상피세포막항원、AE1／AE3화CAM5．2，특정성지불표체INI1；수방8례중5례1년내사망，기여3례분별수방1、3、7개월，목전잉재접수진일보치료。결론E－MRT시일충한견적、호발우인동적고도악성종류，역발생복발화전이，5년생존솔저，전형적림상병리특정화독특적면역표형가조기명학진단、피면오진，유조우진일보치료。
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.