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|Title: ||The Molecular Pathogenesis of Phaeochromocytomas and Paragangliomas|
|Authors: ||Tsang, Venessa Hin Man|
|Issue Date: ||2-Mar-2015|
|Publisher: ||University of Sydney|
Sydney Medical School
|Abstract: ||Phaeochoromocytomas (PC) and paragangliomas (PGL) are tumours of neuroendocrine origin, arising either from the adrenal medulla (PC) or the sympathetic and parasympathetic chain (PGL). The current challenge in the management of these tumours lies in the lack of prediction of metastatic risk, as the treatment options once malignant, are limited and non-curative.
The pathogenesis of PC and PGL has been better elucidated over the last ten years, with the discovery now of over 14 predisposing germline mutations causing up to 30% of tumours, and a further 10% associated with somatic mutations in the same genes. Succinate dehydrogenase subunits A-D (collectively SDHx) mutations constitute the majority of germline mutations causing PC and PGL. It is not known how these mutations cause tumours, whether there are any environmental contributors to tumorigenesis, making counselling of carriers of these mutations difficult. There is also no viable cell model on which to test hypotheses and therapeutics.
This thesis aims to examine the pathogenesis of SDHx, look for a link between hypoxia and germline mutations, find a novel marker of malignancy, and to develop a novel cell system to test these hypotheses, advancing our understanding of this disease.|
|Access Level: ||Access is restricted to staff and students of the University of Sydney . UniKey credentials are required. Non university access may be obtained by visiting the University of Sydney Library.|
|Rights and Permissions: ||The author retains copyright of this thesis. It may only be used for the purposes of research and study. It must not be used for any other purposes and may not be transmitted or shared with others without prior permission.|
|Type of Work: ||PhD Doctorate|
|Type of Publication: ||Doctor of Philosophy Ph.D.|
|Appears in Collections:||Sydney Digital Theses (University of Sydney Access only)|
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|TSANG Venessa - Final Thesis.pdf||Thesis||29.51 MB||Adobe PDF|
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