Clinical and biological studies of the Alternative Lengthening of Telomeres in paediatric brain tumours
Year: 2015
Type: dissertation
Study design: Observational Study
Abstract: Certain cancers maintain telomeres using the alternative lengthening of telomeres (ALT), which is associated with mutations to specific genes in several cancers. ALT has not been characterized in paediatric brain tumours (PBTs).We hypothesized that ALT is present in PBTs, is associated with mutations to ALT-associated genes, and impacts survival.517 PBTs and 163 control tumours were screened for ALT using the c-circle assay.ALT was found in high grade PBTs of mesenchymal/neuroepithelial tissue origin characterized by a high incidence of mutant TP53. ALT was associated with TP53 (p = 7.32x10-8) and ATRX (p = 5.23x10-4) mutations. ALT abrogated poor survival in TP53 mutant paediatric malignant gliomas (p = 0.03). Association with improved survival approached significance in TP53 mutant choroid plexus carcinoma (p = 0.07).ALT is found in PBTs harboring somatic TP53 mutations, and impacts survival. Stratification using ALT is important for the management of these cancers in children.
Source: TSpace (University of Toronto)
Author: Joshua Mangerel
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2528072921