Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management

• Published in: Journal of Korean Neurosurgical Society Vol. 68; no. 3; pp. 311 - 320
• Main Authors: Kim, Taehoon, Phi, Ji Hoon
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Neurosurgical Society 01.05.2025; 대한신경외과학회
• Subjects: Review; 신경외과학; Rhabdoid tumor predisposition syndrome; Epigenomics
• ISSN: 2005-3711; 1598-7876
• DOI: 10.3340/jkns.2025.0014

Rhabdoid tumor predisposition syndrome (RTPS) is a rare autosomal dominant disorder characterized by an increased risk of developing malignant rhabdoid tumors in early childhood. This syndrome is primarily caused by germline heterozygous loss-of-function pathogenic variants in the SMARCB1 gene (RTPS1) and rarely in the SMARCA4 gene (RTPS2). RTPS is characterized by the development of atypical teratoid rhabdoid tumors of the central nervous system, malignant rhabdoid tumors of the kidney, and/or extrarenal extracranial rhabdoid tumors. The syndrome demonstrates high penetrance, with most tumors developing before age 3 years, and carries a poor prognosis despite intensive multimodal therapy. Early diagnosis through genetic testing, implementation of surveillance protocols, and aggressive treatment approaches are crucial for improving outcomes. This review comprehensively examines the genetic basis, clinical manifestations, surveillance strategies, and current management approaches for RTPS, with particular emphasis on emerging therapeutic options and the importance of multidisciplinary care.