Rare Disease Oncogenomics


Research Overview

The Rare Disease Oncogenomics (RADIO) laboratory is dedicated to translational research of rare and less common cancers. Our research encompasses neuroendocrine tumours (NET), including tumours of sympathetic tissues (pheochromocytoma and parganglioma) and skin (Merkel cell carcinoma), as well as cancers of unknown primary (CUP). We use advanced molecular methods to survey the genomic landscape of cancer cells and their tumour “microenvironment” to better understand the underlying biology of these rare diseases, develop diagnostic and prognostic tests for the clinic, and to find new therapeutic targets for better and more precise cancer treatment.


Atara Posner
Andrew Pattison
Shiva Balachander


Peter MacCallum Cancer Centre, Melbourne 
Kolling Institute and Royal North Shore Hospital, Sydney 
National Institute of Health, Bethesda, USA 
American Australian Asian Adrenal Alliance (A5) (USA, Australia, New Zealand, Canada, Singapore)
University Hospital Essen/West German Cancer Centre/ German Cancer Consortium (DKTK) 
Melanoma Institute Australia, Sydney 
Royal North Shore Hospital, Sydney
Peter Doherty Institute
ANZMTG (Australasian Merkel Interest Group, AMIGOs)(Sydney, Brisbane Adelaide, Melbourne)
Australian SUPER study group (Victoria, NSW, NT, SA)


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

Research Publications

See complete list of Richard Tothill’s publications.

  1. Dwight, T., Flynn, A., Amarasinghe, K., Benn, D.E. Lupat, R., Li, J.,…Tothill, R.W (2018). TERT Structural rearrangements in metastatic pheochromocytomas. Endocrine-Related Cancer. 25(1):1-9.
  2. Lefebure M*, Tothill RW*,…, Johnstone RW (2017). Genomic characterisation of Eµ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene. Nature Communications. Mar;8:14581 * contributed equally.

  3. Flynn,A, Dwight, T, Benn, D, Deb, S, Colebatch, AJ, Fox, S… Tothill, R.W (2017) Cousins not twins: intra and inter-tumoral heterogeneity in syndromic neuroendocrine tumours. Journal of Pathology. 242(3):273-283

  4. Flynn A, Dwight T, Harris J, Benn D, Zhou L, Hogg A, Catchpoole, D, … Tothill, RW (2016) Pheo-type: a diagnostic gene-expression assay for the classification of pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 101(3): 1034-43
  5. Moran S,…Tothill, R….et al. Epigenetic profiling to classify cancer of unknown primary: a multicentre, retrospective analysis. Lancet Oncol 17, 1386-1395 (2016).
  6. Wong SQ, Waldeck K, Vergara IA, Schroder J, Madore J, Wilmott JS, …Tothill, RW (2015). UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas. Cancer Research 75(24):5228-34

  7. Flynn, A., Benn, D., Clifton-Bligh, R., Robinson, B., Trainer, A. H., James, P., … Tothill, R. W (2015). The genomic landscape of phaeochromocytoma. Journal of Pathology. 236(1): 78–89

  8. Tothill, RW, Shi, F, Paiman, L, Bedo, J, Kowalczyk, A, Mileshkin, L, et al (2015) Development and Validation of a Gene Expression Tumour Classifier for Cancer of Unknown Primary. Pathology 47(1): 7-12
  9. Tothill, R.W., Li, J., Mileshkin, L., Doig, K., Siganakis, T., Cowin, P., et al (2013) Massively-parallel sequencing assists the diagnosis and guided treatment of cancers of unknown primary. Journal of Pathology. 231(4): 413-23.

  10. Tothill R, Estall V, Rischin D. Merkel cell carcinoma: emerging biology, current approaches, and future directions. (2015) Am Soc Clin Oncol Educ Book; 35:e519–26.
  11. Meldrum, C., Doyle,M.A. and Tothill, R.W. (2011) Next-Generation Sequencing for Cancer Diagnostics: a Practical Perspective. Clinical Biochemist Reviews 32: 177-95

Research Projects

Faculty Research Themes


School Research Themes

Cancer in Medicine

Key Contact

For further information about this research, please contact Dr Richard Tothill Tothill

Department / Centre

Clinical Pathology

Unit / Centre

Rare Disease Oncogenomics

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