Journal article
A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary
A Posner, OWJ Prall, T Sivakumaran, D Etemadamoghadam, N Thio, A Pattison, S Balachander, K Fisher, S Webb, C Wood, A DeFazio, N Wilcken, B Gao, CS Karapetis, M Singh, IM Collins, G Richardson, C Steer, M Warren, N Karanth Show all
Journal of Pathology | WILEY | Published : 2023
DOI: 10.1002/path.6022
Abstract
Cancer of unknown primary (CUP) is a syndrome defined by clinical absence of a primary cancer after standardised investigations. Gene expression profiling (GEP) and DNA sequencing have been used to predict primary tissue of origin (TOO) in CUP and find molecularly guided treatments; however, a detailed comparison of the diagnostic yield from these two tests has not been described. Here, we compared the diagnostic utility of RNA and DNA tests in 215 CUP patients (82% received both tests) in a prospective Australian study. Based on retrospective assessment of clinicopathological data, 77% (166/215) of CUPs had insufficient evidence to support TOO diagnosis (clinicopathology unresolved). The re..
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Awarded by University of Melbourne
Funding Acknowledgements
We acknowledge Cameron Patrick of the Melbourne Statistical Consulting Platform for providing statistical support. We wish to thank Jillian Hung and Niklyn Nevins, SUPER study coordinators at Westmead and Blacktown; Lisa Kay at Nepean; Karin Lyon (ethics and governance); and acknowledge the contributions of the Nepean Cancer Biobank and the Westmead GynBiobank for facilitating the study. We would like to acknowledge the American Association for Cancer Research and its financial and material support in the development of the AACR Project GENIE registry, as well as members of the consortium for their commitment to data sharing. Interpretations are the responsibility of the study authors. We wish to acknowledge the patients who have contributed to this study and the CUP consumer steering committee, Cindy Bryant (chair), Kym Sheehan, Christine Bradford, Clare Brophy, Dale Witton, and Frank Stoss. The study was supported by funding from Cancer Australia (APP1048193, APP1082604) and the Victorian Cancer Agency (TRP13062). RWT was supported by funding from the Victorian Cancer Agency (TP828750). The Westmead, Blacktown, and Nepean study sites were supported by the Cancer Institute NSW 11/TRC/1-06, 15/TRC/1-01, and 15/RIG/1-16. Open access publishing facilitated by The University of Melbourne, as part of the Wiley -The University of Melbourne agreement via the Council of Australian University Librarians.