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

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Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes.
Nature Medicine ( IF 58.7 ) Pub Date : 2020-06-22 , DOI: 10.1038/s41591-020-0933-1
Pier Vitale Nuzzo _{1,

2,

3} , Jacob E Berchuck _{1,

2} , Keegan Korthauer _{4,

5} , Sandor Spisak ₂ , Amin H Nassar _{1,

2} , Sarah Abou Alaiwi _{1,

2} , Ankur Chakravarthy ₆ , Shu Yi Shen ₆ , Ziad Bakouny ₁ , Francesco Boccardo _{3,

7} , John Steinharter ₁ , Gabrielle Bouchard ₁ , Catherine R Curran ₁ , Wenting Pan ₁ , Sylvan C Baca _{1,

2,

8} , Ji-Heui Seo _{1,

2} , Gwo-Shu Mary Lee _{1,

2} , M Dror Michaelson ₉ , Steven L Chang ₁₀ , Sushrut S Waikar _{11,

12} , Guru Sonpavde ₁ , Rafael A Irizarry _{13,

14} , Mark Pomerantz _{1,

2} , Daniel D De Carvalho _{6,

15} , Toni K Choueiri _{1,

8} , Matthew L Freedman _{1,

2,

8}

Affiliation

Department of Medical Oncology, The Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Department of Internal Medicine and Medical Specialties, School of Medicine, University of Genoa, Genoa, Italy.
Department of Statistics, University of British Columbia, Vancouver, British Columbia, Canada.
BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Academic Unit of Medical Oncology, IRCCS San Martino Polyclinic Hospital, Genoa, Italy.
The Eli and Edythe L. Broad Institute, Cambridge, MA, USA.
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.
Section of Nephrology, Boston University Medical Center, Boston, MA, USA.
Department of Biostatistics, Harvard University, Cambridge, MA, USA.
Department of Data Sciences, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.

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).

中文翻译：

使用血浆和尿液游离 DNA 甲基化组检测肾细胞癌。

改善早期癌症检测有可能大大降低与癌症相关的死亡率。无细胞甲基化 DNA 免疫沉淀和高通量测序 (cfMeDIP-seq) 是一种能够检测早期肿瘤的高灵敏度检测方法。我们报告了血浆中肾细胞癌 (RCC) 各个阶段的患者的准确分类（受试者工作特征 (AUROC) 曲线下面积为 0.99），并证明了该测定法使用尿液游离 DNA 鉴定 RCC 患者的有效性（cfDNA；AUROC 为 0.86）。

更新日期：2020-06-23

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