Email this article Atypical teratoid rhabdoid tumor: review of literature
- Authors: Supik Z.S.1, Papusha L.I.1, Drui A.Y.1, Yasko L.A.1, Karachunskiy A.I.1
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Affiliations:
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
- Issue: Vol 17, No 3 (2018)
- Pages: 120-126
- Section: LITERATURE REVIEW
- Submitted: 24.09.2018
- Accepted: 24.09.2018
- Published: 24.09.2018
- URL: https://hemoncim.com/jour/article/view/198
- DOI: https://doi.org/10.24287/1726-1708-2018-17-3-120-126
- ID: 198
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Abstract
Atypical teratoid-rhabdoid tumor (AT/RT) is a rare and aggressive malignant tumor of central nervous system (CNS), comprises approximetaly 1–2% of all pediatric brain tumors. Genetic feature of AT/RT are inactivating mutations in the DNA sequence of genes encoding the core elements of the chromatin remodeling complex SWI/SNF. The vast majority of rhabdoid tumors present with a loss of function in the SMARCB1 gene, which localizes on the long arm of 22 chromosomes (22q11.23). When the germ-line mutation occurs in the SMARCB1 gene, the syndrome is called RTPS1, and when the mutation occurs in the SMARCA4 gene it is called RTPS2. The standards of therapy for patients with AT/RT are not currently defined and the survival remains very low, but, after the introduction of modern multimodal therapy protocols, have slightly improved in the last years. The article presents an overview of existing methods for the diagnosis and treatment of AT/RT, as well as new approaches to the investigation of the molecular genetic causes of the clinical heterogeneity of this tumor.
About the authors
Z. S. Supik
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
Author for correspondence.
Email: zhannasupik@gmail.com
ORCID iD: 0000-0003-4089-8284
Jeanne S. Supik, MD, Pediatric oncologist, Department of pediatric hematology, oncology
117997, Moscow, Samory Mashela st., 1
Russian FederationL. I. Papusha
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0001-7750-5216
Russian Federation
A. Y. Drui
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0003-1308-8622
Russian Federation
L. A. Yasko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0003-3007-3772
Russian Federation
A. I. Karachunskiy
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, ImmunologyRussian Federation
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