Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes.
Pier Vitale NuzzoJacob E BerchuckKeegan KorthauerSandor SpisakAmin H NassarSarah Abou AlaiwiAnkur ChakravarthyShu Yi ShenZiad BakounyFrancesco BoccardoJohn SteinharterGabrielle BouchardCatherine R CurranWenting PanSylvan C BacaJi-Heui SeoGwo-Shu Mary LeeM Dror MichaelsonSteven L ChangSushrut S WaikarGuru SonpavdeRafael A IrizarryMark PomerantzDaniel D De CarvalhoToni K ChoueiriMatthew L FreedmanPublished in: Nature medicine (2020)
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).
Keyphrases
- renal cell carcinoma
- cell free
- high throughput sequencing
- early stage
- end stage renal disease
- circulating tumor
- high throughput
- label free
- chronic kidney disease
- ejection fraction
- loop mediated isothermal amplification
- machine learning
- papillary thyroid
- peritoneal dialysis
- prognostic factors
- real time pcr
- deep learning
- squamous cell carcinoma
- cardiovascular disease
- radiation therapy
- high resolution
- gene expression
- squamous cell
- mass spectrometry
- coronary artery disease
- lymph node metastasis
- childhood cancer
- locally advanced