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

P.V. Nuzzo; J.E. Berchuck; K. Korthauer; S. Spisak; A.H. Nassar; S. Abou Alaiwi; A. Chakravarthy; S.Y. Shen; Z. Bakouny; F. Boccardo; J. Steinharter; G. Bouchard; C.R. Curran; W. Pan; S.C. Baca; J.-H. Seo; G.-S.M. Lee; M.D. Michaelson; S.L. Chang; S.S. Waikar; G. Sonpavde; R.A. Irizarry; M. Pomerantz; D.D. De Carvalho; T.K. Choueiri; M.L. Freedman

doi:10.1038/s41591-020-0933-1

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

P.V. Nuzzo, J.E. Berchuck, K. Korthauer, S. Spisak, A.H. Nassar, S. Abou Alaiwi, A. Chakravarthy, S.Y. Shen, Z. Bakouny, F. Boccardo, J. Steinharter, G. Bouchard, C.R. Curran, W. Pan, S.C. Baca, J.-H. Seo, G.-S.M. Lee, M.D. Michaelson, S.L. Chang, S.S. WaikarG. Sonpavde, R.A. Irizarry, M. Pomerantz, D.D. De Carvalho, T.K. Choueiri, M.L. Freedman

A.O.U. San Martino - IST, Istituto Nazionale Ricerca sul Cancro (GENOVA)

Research output: Contribution to journal › Article › peer-review

Abstract

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). © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Original language	English
Pages (from-to)	1041-1043
Number of pages	3
Journal	Nat. Med.
Volume	26
DOIs	https://doi.org/10.1038/s41591-020-0933-1
Publication status	Published - 2020

Keywords

ONCOLOGIA
ARTICOLO
RIS

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10.1038/s41591-020-0933-1

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Nuzzo, P. V., Berchuck, J. E., Korthauer, K., Spisak, S., Nassar, A. H., Abou Alaiwi, S., Chakravarthy, A., Shen, S. Y., Bakouny, Z., Boccardo, F., Steinharter, J., Bouchard, G., Curran, C. R., Pan, W., Baca, S. C., Seo, J-H., Lee, G-SM., Michaelson, M. D., Chang, S. L., ... Freedman, M. L. (2020). Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes: Nature Medicine. Nat. Med., 26, 1041-1043. https://doi.org/10.1038/s41591-020-0933-1

Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes : Nature Medicine. / Nuzzo, P.V.; Berchuck, J.E.; Korthauer, K.; Spisak, S.; Nassar, A.H.; Abou Alaiwi, S.; Chakravarthy, A.; Shen, S.Y.; Bakouny, Z.; Boccardo, F.; Steinharter, J.; Bouchard, G.; Curran, C.R.; Pan, W.; Baca, S.C.; Seo, J.-H.; Lee, G.-S.M.; Michaelson, M.D.; Chang, S.L.; Waikar, S.S.; Sonpavde, G.; Irizarry, R.A.; Pomerantz, M.; De Carvalho, D.D.; Choueiri, T.K.; Freedman, M.L.

In: Nat. Med., Vol. 26, 2020, p. 1041-1043.

Research output: Contribution to journal › Article › peer-review

Nuzzo, PV, Berchuck, JE, Korthauer, K, Spisak, S, Nassar, AH, Abou Alaiwi, S, Chakravarthy, A, Shen, SY, Bakouny, Z, Boccardo, F, Steinharter, J, Bouchard, G, Curran, CR, Pan, W, Baca, SC, Seo, J-H, Lee, G-SM, Michaelson, MD, Chang, SL, Waikar, SS, Sonpavde, G, Irizarry, RA, Pomerantz, M, De Carvalho, DD, Choueiri, TK & Freedman, ML 2020, 'Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes: Nature Medicine', Nat. Med., vol. 26, pp. 1041-1043. https://doi.org/10.1038/s41591-020-0933-1

Nuzzo, P.V. ; Berchuck, J.E. ; Korthauer, K. ; Spisak, S. ; Nassar, A.H. ; Abou Alaiwi, S. ; Chakravarthy, A. ; Shen, S.Y. ; Bakouny, Z. ; Boccardo, F. ; Steinharter, J. ; Bouchard, G. ; Curran, C.R. ; Pan, W. ; Baca, S.C. ; Seo, J.-H. ; Lee, G.-S.M. ; Michaelson, M.D. ; Chang, S.L. ; Waikar, S.S. ; Sonpavde, G. ; Irizarry, R.A. ; Pomerantz, M. ; De Carvalho, D.D. ; Choueiri, T.K. ; Freedman, M.L. / Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes : Nature Medicine. In: Nat. Med. 2020 ; Vol. 26. pp. 1041-1043.

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abstract = "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). {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.",

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AU - Sonpavde, G.

AU - Irizarry, R.A.

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AU - Choueiri, T.K.

AU - Freedman, M.L.

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