2.50
Hdl Handle:
http://hdl.handle.net/2436/30198
Title:
TP53 mutation is infrequent in aneuploid choroid plexus tumours
Authors:
Warr, Tracy; Idowu, Michael O.; Suarez-Merino, Blanca; Ward, Samantha; Harkness, William; Hayward, Richard; Thompson, Dominic; Darling, John L.; Thomas, David G.
Other Titles:
In: Tenth International Symposium on Pediatric Neuro-Oncology, June 9–12, 2002, London, England. No.195
Abstract:
Choroid plexus tumours are uncommon primary brain tumours that arise predominantly in the paediatric population. Although cytogenetic studies are limited, it appears that in both benign choroid plexus papilloma (WHO grade I) and histologically malignant choroid plexus carcinoma (WHO grade III), there is a prevalence of numerical rather than structural chromosomal aberrations. In particular, additional copies of chromosomes 7, 8, 12, 15, 18, and 20 have been reported in several tumours. In the present study, we analysed 10 choroid plexus tumours comprising 9 papillomas and 1 carcinoma for genomic loss or gain using comparative genomic hybridisation. Four cases had no detectable regions of imbalance. The remaining tumours had multiple copy number aberrations (CNAs) ranging from 2 to 22 (mean 8.2), and all of the autosomes were involved at least once. The most common changes were gains of 7, 9p, and 20, and losses of 3p and 10q, which were each seen in 3 cases. In contrast to previous reports, chromosome loss was as frequent as gain. Additionally, imbalance of single chromosome arms was observed in 3 tumours, which may be indicative of structural abnormalities. In many other tumour types, aneuploidy is often associated with loss of functional p53. To investigate the role of TP53 in the development of choroid plexus tumours, we screened all 10 cases for mutations by direct sequencing of exons 4–8 and their corresponding splice junctions. In 1 papilloma, a missense mutation was detected at codon 273 in which a G to A transition results in the replacement of an arginine residue by a histidine residue. Codon 273 is a hotspot for mutation in many types of tumour, including astrocytoma. Interestingly, this tumour was aneuploid for every autosome. There were no mutations present in the remaining 9 cases, and it is unlikely that TP53 inactivation is critical to the pathogenesis of choroid plexus tumours. Further investigations are necessary to elucidate the genetic pathways involved in tumourigenesis.
Citation:
Neuro-oncology, 5(1): 70
Publisher:
Society for Neuro-Oncology and Duke University Press
Journal:
Neuro-oncology
Issue Date:
2003
URI:
http://hdl.handle.net/2436/30198
Additional Links:
http://neuro-oncology.dukejournals.org/
Type:
Meetings & Proceedings
Language:
en
Description:
Abstracts from Neuro-Oncology are provided here courtesy of Society for Neuro-Oncology and Duke University Press.
ISSN:
1522-8517
Appears in Collections:
Cancer Research Group

Full metadata record

DC FieldValue Language
dc.contributor.authorWarr, Tracy-
dc.contributor.authorIdowu, Michael O.-
dc.contributor.authorSuarez-Merino, Blanca-
dc.contributor.authorWard, Samantha-
dc.contributor.authorHarkness, William-
dc.contributor.authorHayward, Richard-
dc.contributor.authorThompson, Dominic-
dc.contributor.authorDarling, John L.-
dc.contributor.authorThomas, David G.-
dc.date.accessioned2008-06-19T11:50:02Z-
dc.date.available2008-06-19T11:50:02Z-
dc.date.issued2003-
dc.identifier.citationNeuro-oncology, 5(1): 70en
dc.identifier.issn1522-8517-
dc.identifier.urihttp://hdl.handle.net/2436/30198-
dc.descriptionAbstracts from Neuro-Oncology are provided here courtesy of Society for Neuro-Oncology and Duke University Press.en
dc.description.abstractChoroid plexus tumours are uncommon primary brain tumours that arise predominantly in the paediatric population. Although cytogenetic studies are limited, it appears that in both benign choroid plexus papilloma (WHO grade I) and histologically malignant choroid plexus carcinoma (WHO grade III), there is a prevalence of numerical rather than structural chromosomal aberrations. In particular, additional copies of chromosomes 7, 8, 12, 15, 18, and 20 have been reported in several tumours. In the present study, we analysed 10 choroid plexus tumours comprising 9 papillomas and 1 carcinoma for genomic loss or gain using comparative genomic hybridisation. Four cases had no detectable regions of imbalance. The remaining tumours had multiple copy number aberrations (CNAs) ranging from 2 to 22 (mean 8.2), and all of the autosomes were involved at least once. The most common changes were gains of 7, 9p, and 20, and losses of 3p and 10q, which were each seen in 3 cases. In contrast to previous reports, chromosome loss was as frequent as gain. Additionally, imbalance of single chromosome arms was observed in 3 tumours, which may be indicative of structural abnormalities. In many other tumour types, aneuploidy is often associated with loss of functional p53. To investigate the role of TP53 in the development of choroid plexus tumours, we screened all 10 cases for mutations by direct sequencing of exons 4–8 and their corresponding splice junctions. In 1 papilloma, a missense mutation was detected at codon 273 in which a G to A transition results in the replacement of an arginine residue by a histidine residue. Codon 273 is a hotspot for mutation in many types of tumour, including astrocytoma. Interestingly, this tumour was aneuploid for every autosome. There were no mutations present in the remaining 9 cases, and it is unlikely that TP53 inactivation is critical to the pathogenesis of choroid plexus tumours. Further investigations are necessary to elucidate the genetic pathways involved in tumourigenesis.en
dc.language.isoenen
dc.publisherSociety for Neuro-Oncology and Duke University Pressen
dc.relation.urlhttp://neuro-oncology.dukejournals.org/en
dc.subjectOncologyen
dc.subjectChoroid plexusen
dc.subjectPaediatric tumoursen
dc.subjectBrain Tumoursen
dc.subjectMalignant tumoursen
dc.subjectChromosomal Aberrationsen
dc.subjectGenomicsen
dc.subjectGene Therapyen
dc.subjectAneuploidyen
dc.subjectTP53en
dc.subjectAstrocytomaen
dc.titleTP53 mutation is infrequent in aneuploid choroid plexus tumoursen
dc.title.alternativeIn: Tenth International Symposium on Pediatric Neuro-Oncology, June 9–12, 2002, London, England. No.195en
dc.typeMeetings & Proceedingsen
dc.identifier.journalNeuro-oncologyen
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