儿童恶性横纹肌样瘤分子遗传学和诊治进展  

Advances in molecular genetics,diagnosis,and treatment of malignant rhabdoid tumors in children

作　　者：唐雪[1] 郭霞(综述)[1] 高举(审校)[1] TANG Xue;GUO Xia;GAO ju(Department of Pediatric Hematology-Oncology,West China Second University Hospital,Sichuan University,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Sichuan University,Ministry of Education,Chengdu 610041,Sichuan,China)

机构地区：[1]四川大学华西第二医院儿童血液肿瘤科,四川大学出生缺陷与相关妇儿疾病教育部重点实验室,四川成都610041

出　　处：《临床儿科杂志》2021年第9期706-710,共5页Journal of Clinical Pediatrics

基　　金：成都市科技局重点研发支撑计划项目(No.2019-YF05-01140-SN);四川省科技厅重点研发项目(No.19ZDYF1202,No.2020YFS0253)。

摘　　要：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.

关 键 词：恶性横纹肌样瘤 SMARCB1基因 INI1蛋白 诊断 儿童 

分 类 号：R738.7[医药卫生—肿瘤]