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

  • TANG Xue ,
  • GUO Xia
Expand
  • 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

Online published: 2021-09-03

Abstract

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.

Cite this article

TANG Xue , GUO Xia . Advances in molecular genetics, diagnosis, and treatment of malignant rhabdoid tumors in children[J]. Journal of Clinical Pediatrics, 2021 , 39(9) : 706 . DOI: 10.3969/j.issn.1000-3606.2021.09.016

Outlines

/