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PMID: 12946029 Published · ppublish English Journal Article Review

Atypical teratoid/rhabdoid tumors and choroid plexus tumors: when genetics "surprise" pathology.

Brain pathology (Zurich, Switzerland) ·Vol. 13 ·No. 3 ·2003-07-00 ·Pages 409-14

Gessi M, Giangaspero F, Pietsch T

Abstract

Atypical teratoid/rhabdoid tumor (ATRT) and choroid plexus tumors (CPT) represent, so far, 2 well defined types of CNS neoplasm on the basis of their histological features and clinical presentation (10). While CPTs are intraventricular epithelial tumors arising from choroid plexus epithelium, the cellular origin of ATRTs is still unknown. Inactivating mutations of the hSNF5/INI-1 gene located in the chromosomal region 22q11.2 are regarded as a crucial step in the molecular pathogenesis of ATRTs; the genetic changes associated with CPTs are largely unknown. However, the recent finding of inactivation of hSNF5/INI-1 in choroid plexus carcinomas and papillomas (9, 18) points to a closer relationship between these 2 entities. This is supported by the occurence of choroid plexus carcinomas (CPC) in the setting of families with rhabdoid predisposition syndrome (RPS), (19) caused by germ line inactivation of the INI1 gene.

MeSH Terms
Central Nervous System Neoplasms/genetics,pathology Choroid Plexus Neoplasms/genetics,pathology Chromosomal Proteins, Non-Histone DNA-Binding Proteins/genetics,metabolism Gene Silencing Humans Keratins/genetics,metabolism Mutation Rhabdoid Tumor/genetics,pathology SMARCB1 Protein Sequence Analysis, DNA/methods Teratoma/genetics,pathology Transcription Factors
Chemicals
Chromosomal Proteins, Non-Histone DNA-Binding Proteins SMARCB1 Protein SMARCB1 protein, human Transcription Factors Keratins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Gessi Marco
Department of Pathology, Catholic University, Rome, Italy.
Giangaspero Felice
Pietsch Torsten
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18 references, click to expand
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Article Info
Journal
Brain pathology (Zurich, Switzerland)
Abbr.
Brain Pathol
ISSN
1015-6305
DOI
10.1111/j.1750-3639.2003.tb00039.x
Published
2003-07-00
Pages
409-14
Language
English
Region
Switzerland
NLM ID
9216781
PMCID
PMC8095919
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1750-3639.2003.tb00039.x PMC Full Text View journal details
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