Circulating tumor DNA (ctDNA) detection is associated with shorter progression-free survival in advanced melanoma patients

Sci Rep. 2020 Oct 29;10(1):18682. doi: 10.1038/s41598-020-75792-1.

Abstract

BRAF, NRAS and TERT mutations occur in more than 2/3 of melanomas. Its detection in patient's blood, as circulating tumor DNA (ctDNA), represents a possibility for identification and monitoring of metastatic disease. We proposed to standardize a liquid biopsy platform to identify hotspot mutations in BRAF, NRAS and TERT in plasma samples from advanced melanoma patients and investigate whether it was associated to clinical outcome. Firstly, we performed digital polymerase chain reaction using tumor cell lines for validation and determination of limit of detection (LOD) of each assay and screened plasma samples from healthy individuals to determine the limit of blank (LOB). Then, we selected 19 stage III and IV patients and determined the somatic mutations status in tumor tissue and track them in patients' plasma. We established a specific and sensitive methodology with a LOD ranging from 0.13 to 0.37%, and LOB ranging from of 0 to 5.201 copies/reaction. Somatic mutations occurred in 17/19 (89%) patients, of whom seven (41%) had ctDNA detectable their paired plasma. ctDNA detection was associated with shorter progression free survival (p = 0.01). In conclusion, our data support the use of ctDNA as prognosis biomarker, suggesting that patients with detectable levels have an unfavorable outcome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics
  • Disease-Free Survival
  • Female
  • GTP Phosphohydrolases / genetics
  • Humans
  • Limit of Detection
  • Liquid Biopsy
  • Male
  • Melanoma / blood
  • Melanoma / pathology*
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction / methods
  • Prognosis
  • Proto-Oncogene Proteins B-raf / genetics
  • Skin Neoplasms / blood
  • Skin Neoplasms / pathology*
  • Telomerase / genetics

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA
  • Membrane Proteins
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • TERT protein, human
  • Telomerase
  • GTP Phosphohydrolases
  • NRAS protein, human