Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes.

Improving early cancer detection has the potential to substantially reduce cancer-related mortality. Cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq) is a highly sensitive assay capable of detecting early-stage tumors. We report accurate classification of patients across all stages of renal cell carcinoma (RCC) in plasma (area under the receiver operating characteristic (AUROC) curve of 0.99) and demonstrate the validity of this assay to identify patients with RCC using urine cell-free DNA (cfDNA; AUROC of 0.86).

Nature medicine. 2020 Jun 22 [Epub ahead of print]

Pier Vitale Nuzzo, Jacob E Berchuck, Keegan Korthauer, Sandor Spisak, Amin H Nassar, Sarah Abou Alaiwi, Ankur Chakravarthy, Shu Yi Shen, Ziad Bakouny, Francesco Boccardo, John Steinharter, Gabrielle Bouchard, Catherine R Curran, Wenting Pan, Sylvan C Baca, Ji-Heui Seo, Gwo-Shu Mary Lee, M Dror Michaelson, Steven L Chang, Sushrut S Waikar, Guru Sonpavde, Rafael A Irizarry, Mark Pomerantz, Daniel D De Carvalho, Toni K Choueiri, Matthew L Freedman

Department of Medical Oncology, The Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Department of Statistics, University of British Columbia, Vancouver, British Columbia, Canada., Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada., Department of Internal Medicine and Medical Specialties, School of Medicine, University of Genoa, Genoa, Italy., Massachusetts General Hospital Cancer Center, Hematology/Oncology, Boston, MA, USA., Division of Urology, Brigham and Women's Hospital, Boston, MA, USA., Division of Renal Medicine, Brigham and Women's Hospital, Boston, MA, USA., Department of Biostatistics, Harvard University, Cambridge, MA, USA., Department of Medical Oncology, The Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. ., Department of Medical Oncology, The Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. .