Journal article

Massively-parallel sequencing assists the diagnosis and guided treatment of cancers of unknown primary

Richard W Tothill, Jason Li, Linda Mileshkin, Ken Doig, Terence Siganakis, Prue Cowin, Andrew Fellowes, Timothy Semple, Stephen Fox, Keith Byron, Adam Kowalczyk, David Thomas, Penelope Schofield, David D Bowtell



The clinical management of patients with cancer of unknown primary (CUP) is hampered by the absence of a definitive site of origin. We explored the utility of massively-parallel (next-generation) sequencing for the diagnosis of a primary site of origin and for the identification of novel treatment options. DNA enrichment by hybridization capture of 701 genes of clinical and/or biological importance, followed by massively-parallel sequencing, was performed on 16 CUP patients who had defied attempts to identify a likely site of origin. We obtained high quality data from both fresh-frozen and formalin-fixed, paraffin-embedded samples, demonstrating accessibility to routine diagnostic material. ..

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Funding Acknowledgements

We would like to thank the patients and clinicians who provided materials and information for the study. This study was supported by Cancer Australia. CUP patients were recruited through the Cancer 2015 study and supported by a Victorian Cancer Agency. NICTA is funded by the Australian Government as represented by the Department of Broadband, Communications and the Digital Economy and the Australian Research Council through the ICT Centre of Excellence program. We thank Tim Holloway for his contribution to the study.