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Pediatric Atypical Teratoid/Rhabdoid Tumor in the Spine: Diagnosis and Treatment

  • Stella Stabouli
Chapter
Part of the Pediatric Cancer book series (PECA, volume 3)

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) in the spine is an extremely rare pediatric neoplasm. It usually occurs in very young children and the exact incidence of the disease is not yet known. The differential diagnosis primarily includes primitive neuroectodermal tumor/medulloblastoma. Deletions and mutations of the SMARCB1/INI1/SNF5 locus in chromosome band 22q11.2 characterize the majority of spinal AT/RTs. Cytogenetic and fluorescence in situ hybridization analysis combined with molecular analysis to detect alterations in INI1 gene confirm the diagnosis of disease. Atypical teratoid/rhabdoid tumor in the spine exhibits a very aggressive behavior and long-term survival is reported in very few patients. Despite the lack of optimal treatment guidelines, multimodal therapy including surgery, chemotherapy and radiation therapy are used in the majority of pediatric patients. The efficacy of specific chemotherapy is difficult to evaluate due to the diversity of regimens used and the small number of patients. On the other hand, there is evidence that surgery may improve survival. Finally, the efficacy radiation therapy in pediatric patients needs to be further investigated.

Keywords

Head Start Central Nervous System Tumor Rhabdoid Tumor Stem Cell Rescue Malignant Rhabdoid Tumor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  1. 1.Pediatric Intensive Care UnitHippokration General HospitalThessalonikiGreece

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