儿童恶性横纹肌样瘤的研究进展

恶性横纹肌样瘤是好发于婴幼儿的少见类型肿瘤,依据肿瘤发生部位的不同,将其分为肾横纹肌样瘤(MRTK)、中枢神经系统非典型性畸胎样/横纹肌样瘤(ATRT)、肾外非中枢神经系统横纹肌样瘤(EERT)3类.染色体22q上的抑癌基因SMARCB1缺失或突变被认为是该肿瘤发生机制的重要环节.该病组织形态学表现为典型横纹肌样细胞,细胞质内含嗜酸性包涵体,再结合特征性免疫组织化学表现即可明确诊断.横纹肌样瘤是一类恶性程度极高的肿瘤,预后较差,目前联合手术、放疗、化疗等多种手段的综合治疗下,仍不能获得满意存活率.本文就3种类型恶性横纹肌样瘤的流行病学、组织病理学、免疫组织化学、诊断、传统及新型治疗方案的研究进展进行综述.

Research progress of malignant rhabdoid tumor in children

Malignant rhabdoid tumor is a rare tumor that arises predominantly in infants and young children.According to different anatomic origins,this tumor mainly can be divided into malignant rhabdoid tumor of the kidney (MRTK),atypical teratoid rhabdoid tumor (ATRT) and extrarenal extracranial rhabdoid tumor (EERT).The mutation or deletion of the tumor suppressor gene SMARCB1 on chromosome 21q plays an important role in the development of tumor.Morphologically,tumor cells are like typical rhabdoid cells,characterized by classic eosinophilic cytoplasmic inclusions.The diagnosis relies on combined histological and immunohistochemical analysis.Rhabdoid tumor is a highly malignant tumor with poor prognosis.Multiple therapeutic strategies include surgery,radiotherapy and systemic chemotherapy,but the survival rate is still very gloomy.This paper reviewed the epidemiology,clinical pathology,immunohistochemistry,diagnosis,historical treatment and discovery of targeted novel therapy.