A5 SDHB Genomics Study

Researcher

Project Details

Pheochromocytoma (from Greek, meaning dusky-coloured tumour) and paraganglioma (PPGL) are two related tumour types. They originate from the sympathetic and parasympathetic tissues found in the adrenal glands, near the spine or within other abdominal organs. PPGL is one of the most heritable neoplasms with approximately 30-40 per cent of patients carrying disease-causing mutations in one of more than 15 predisposing genes. Approximately 10-20 per cent of PPGL patients develop metastatic disease, where the cancer cells spread to other parts of the body. There are currently limited treatment options for metastatic PPGL. Furthermore, there are currently no recognised tests that can predict who may be at higher risk. Patients carrying mutations in the gene SDHB  (a gene change that is transmitted between generations)  are known to be more likely to develop metastases, although the exact reason why only some tumours become aggressive and metastasise is unknown. We are using genomics to understand the pathogenesis of metastatic PPGL in SDHB carriers, identify biomarkers of metastatic risk to inform optimal surveillance and find new therapeutic targets for patient treatment.

Collaborators

Peter MacCallum Cancer Centre, Melbourne (Prof Rod Hicks)
Kolling Institute and Royal North Shore Hospital, Sydney (Prof Rory Clifton-Bligh, Prof Anthony Gill)
National Institute of Health, Bethesda, USA (Prof Karel Pacak)
American Australian Asian Adrenal Alliance (A5) (USA, Australia, New Zealand, Canada, Singapore)

Funding

National Health and Medical Research Council (NHMRC)
Pheo-Para Alliance, USA
Paradifference, Sweden

Research Group

Rare Disease Oncogenomics



Faculty Research Themes

Cancer

School Research Themes

Cancer in Medicine



Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Clinical Pathology

Unit / Centre

Rare Disease Oncogenomics


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