Integrated Genomic Analyses of Childhood Central Nervous System-Ppimitive Neuro-ectodermal Tumours (CNS-PNETs)

• Main Author: Picard, Daniel J
• Other Authors: Huang, Annie
• Language: en_ca
• Published: 2014
• Subjects: Primitive Neuro-ectodermal Tumours; LIN28; OLIG2; CNS-PNET; 0992
• Online Access: http://hdl.handle.net/1807/44053

CNS-PNETs are rare, aggressive, paediatric embryonal brain tumours that are poorly studied. We recently identified an aggressive sub-group of CNS-PNETs characterized by the amplification of the C19MC microRNA cluster, however, little is known regarding the features of other CNS-PNET tumours. This study was designed to define additional molecular sub-groups of CNS-PNET by interrogating a large cohort of CNS-PNETs. To elucidate the features of CNS-PNET, we examined transcriptional and copy number profiles from primary hemispheric CNS-PNETs. We then validated and examined the clinical significance of novel sub-group markers in 123 primary CNS-PNETs. This thesis demonstrates that CNS-PNET can be categorized into three molecular sub-groups that are distinguished by distinct primitive neural, oligo-neural and mesenchymal lineage gene expression signatures and also correlated with distinct clinical features. Data from my thesis has generated a substantial body of knowledge to fuel both biological and clinical investigations of childhood CNS-PNETs.