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Abstract
Choroid plexus tumours (CPTs) are rare intraventricular neoplasms, most commonly found in children, with variable clinical presentation and patient outcome. CPT biology is poorly understood largely due to limited tumour availability and the lack of accurate in-vitro and in-vivo models of disease. My thesis work focused on elucidating the molecular alterations of these rare tumours using high-throughput approaches that enabled the identification of recurrent alterations affecting CPTs and facilitated the classification of clinically and molecularly distinct CPT subgroups. Chapter 1 describes the current clinical and biological understanding of CPTs, providing a background on what’s currently known and identifying research gaps addressed in future chapters. Chapter 2 describes the molecular landscape of CPTs, achieved by defining patterns in copy number, gene expression and DNA methylation, as well as telomere lengthening mechanisms observed in these tumours. Chapter 3 describes the creation of a novel mouse model of CPC and the identification of novel oncogenes involved in CPC development using a cross-species genomics approach. Chapter 4 examines future directions in choroid plexus research and suggests novel avenues to pursue in order to improve our collective understanding on the mechanisms driving CPC development and how to best approach the clinical management of patients with CPC. The aim of this thesis is to highlight recent advances in CPT biology and to provide the molecular framework on which to build an evidence-based treatment strategy to effectively diagnose and treat patients affected by the disease.