The Pathologist / Issues / 2017 / May / The Rise of ctDNA, Part One
Oncology Oncology

The Rise of ctDNA, Part One

New ctDNA assays could make more metastatic melanoma cases detectable

By Roisin McGuigan 05/19/2017 1 min read

Share

5 Key Takeaways

  • 1

    A new blood plasma test detects circulating tumor DNA (ctDNA) to identify mutations in metastatic melanoma.

  • 2

    BRAF and NRAS mutations account for over half of the 50,000 melanoma cases diagnosed in the US.

  • 3

    TERT promoter sequence mutations appear in up to 85 percent of metastatic melanomas but are hard to detect.

  • 4

    Mutation-specific droplet digital PCR was developed to detect TERT mutations with high sensitivity and specificity.

  • 5

    The blood tests could provide an alternative to CT scans, reducing radiation exposure and allowing more frequent testing.

References

  1. B Corless et al., “Detection of TERT C228T and C250T promoter mutations in melanoma tumor and plasma samples using novel mutation-specific droplet digital PCR assays”, Paper presented at the American Associate for Cancer Research 2017 Annual Meeting, April 1–5, Washington, DC, USA. Session PO.CL01.01 – 743 / 9. S Horn et al., “TERT promoter mutations in familial and sporadic melanoma”, Science, 339, 959–961. PMID: 23348503. EurekAlert!, “New gene-based blood tests identify more skin cancers”, (2017). Available at: http://bit.ly/2qjrUfb. Accessed May 15, 2017.

About the Author(s)

Roisin McGuigan

I have an extensive academic background in the life sciences, having studied forensic biology and human medical genetics in my time at Strathclyde and Glasgow Universities. My research, data presentation and bioinformatics skills plus my ‘wet lab’ experience have been a superb grounding for my role as an Associate Editor at Texere Publishing. The job allows me to utilize my hard-learned academic skills and experience in my current position within an exciting and contemporary publishing company.

More Articles by Roisin McGuigan

Explore More in Pathology

Dive deeper into the world of pathology. Explore the latest articles, case studies, expert insights, and groundbreaking research.

Recommended