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Comment
. 2020 Nov;17(11):655-656.
doi: 10.1038/s41571-020-0420-0.

Methylation extends the reach of liquid biopsy in cancer detection

Wenyuan Li  1 , Xianghong Jasmine Zhou  2
Affiliations
Comment

Methylation extends the reach of liquid biopsy in cancer detection

Wenyuan Li et al. Nat Rev Clin Oncol. 2020 Nov.

Abstract

Measuring the methylation status of cell-free DNA (cfDNA) in plasma holds great potential for the early, noninvasive detection of cancer. Two recent papers published in Nature Medicine showcase the successful application of cfDNA methylation- based cancer detection to two highly challenging scenarios.

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Figures

Fig. 1 ∣
Fig. 1 ∣. Applications of cfMeDIP-seq for the detection of intracranial tumours and renal cell carcinomas.
Cell-free DNA (cfDNA) from plasma or urine is extracted and subjected to methylation profiling using the cell-free methylated DNA immunoprecipitation and high- throughput sequencing (cfMeDIP-seq) method. The training samples are used to select features and develop predictive models that reliably discriminate between patients with cancer and those without, as well as between various cancer subtypes. The held-out testing samples are used to validate the classification performance. If a patient is classified as having cancer, additional classifications can be performed to determine the subtype.
See this image and copyright information in PMC

Comment on

  • Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes.
    Nassiri F, Chakravarthy A, Feng S, Shen SY, Nejad R, Zuccato JA, Voisin MR, Patil V, Horbinski C, Aldape K, Zadeh G, De Carvalho DD. Nassiri F, et al. Nat Med. 2020 Jul;26(7):1044-1047. doi: 10.1038/s41591-020-0932-2. Epub 2020 Jun 22. Nat Med. 2020. PMID: 32572265 Free PMC article.
  • Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes.
    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 JH, Lee GM, Michaelson MD, Chang SL, Waikar SS, Sonpavde G, Irizarry RA, Pomerantz M, De Carvalho DD, Choueiri TK, Freedman ML. Nuzzo PV, et al. Nat Med. 2020 Jul;26(7):1041-1043. doi: 10.1038/s41591-020-0933-1. Epub 2020 Jun 22. Nat Med. 2020. PMID: 32572266 Free PMC article.

References

    1. Nassiri F et al. Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes. Nat. Med 26, 1044–1047 (2020). - PMC - PubMed
    1. Nuzzo PV et al. Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes. Nat. Med 26, 1041–1043 (2020). - PMC - PubMed
    1. Bettegowda C et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci. Transl. Med 6, 224ra24 (2014). - PMC - PubMed
    1. Zill OA et al. The landscape of actionable genomic alterations in cell-free circulating tumor DNA from 21,807 advanced cancer patients. Clin. Cancer Res 24, 3528–3538 (2018). - PubMed
    1. Reynard J, Brewster S & Biers S Oxford Handbook of Urology. (Oxford University Press, 2013).

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