Rare childhood tumours: clinical challenges and genetic alterations

    Research output: ThesisDoctoral Thesis

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    Abstract

    [Truncated] A rare disease is one that affects a small percentage of the population. Childhood cancer as a whole is encompassed within the definition of a rare disease. Despite its rarity, cancer is the most common cause of disease-related death in children from developed countries, second only to unintentional injury for all-cause mortality. Remarkable progress has been made in the understanding, management and outcome of frequently occurring paediatric malignancies, through clinical trials and biological research facilitated by large international cooperative groups. In comparison, there remains a significant group of children whose tumours are so infrequent that historically they have been overlooked. The gap in clinical and scientific knowledge for rare paediatric tumours has recently been recognised. In an attempt to better define and improve outcome for these children, rare tumour groups, international disease-specific registries and clinics have subsequently been established. However, this framework does not encompass the study of every rare paediatric cancer, with underrepresented malignancies classified as orphan diseases, for which neither clinical nor scientific structures have been developed to aid in their diagnosis or treatment. This thesis exemplifies how an individual can use distinct clinical and biological approaches to make significant advances for such rare childhood tumours.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Publication statusUnpublished - Jun 2014

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