恶性横纹肌样瘤（MRTs）是一组好发于婴幼儿的高度恶性、高度侵袭性胚胎性肿瘤，依据其原发部位，儿童 MRTs分为中枢神经系统非典型畸胎样/横纹肌样瘤（AT/RT）、肾恶性横纹肌样瘤（MRTK）及肾外非中枢神经系统横纹肌 样瘤（EERT）。抑癌基因SMARCB1遗传缺陷及其编码INI 1蛋白缺失是儿童MRTs的驱动性遗传缺陷和重要诊断依据。儿 童MRTs预后差，即使手术、放疗、化疗联合自体造血干细胞移植联合治疗，总生存率也仅40 %左右。文章综述基于儿童 MRTs异常分子遗传学的诊断和靶向治疗进展。

Malignant rhabdoid tumors (MRTs) are a group of highly malignant and highly aggressive embryonic tumors that tend to occur in infants and young children. According to primary locations, childhood MRTs are classified into atypical teratomoid/rhabdoid tumors of the central nervous system (AT/RT), malignant rhabdoid tumor of the kidney (MRTK) and extrarenal extracranial rhabdoid tumor (EERT). The deletion of SMARCB1 gene and loss of its encoded protein INI 1 are the driving genetic defects and important diagnostic evidence of MRTs in children. The prognosis of MRTs in children is poor, and the overall survival rate is only about 40 % even after the combined treatment of surgery, radiotherapy, chemotherapy and autologous hematopoietic stem cell transplantation. This article reviews the progress of abnormal molecular genetics and targeted therapy of MRTs in children.