Usefulness of circulating tumor DNA by targeting human papilloma virus-derived sequences as a biomarker in p16-positive oropharyngeal cancer

Sci Rep. 2022 Jan 12;12(1):572. doi: 10.1038/s41598-021-04307-3.

Abstract

In head and neck cancer, early detection of recurrence after treatment is important. The contemporary development of therapeutic agents have improved the prognosis after recurrence; however, no biomarker has been established for evaluating therapeutic effects or detecting recurrence. Recently, circulating tumor DNA (ctDNA), which comprises DNA derived from tumor cells and exists in the form of cell-free DNA in the blood, has attracted attention as a minimally invasive and repeatable biomarker for detecting cancer. We validated the usefulness of ctDNA of human papilloma virus (HPV)-derived sequences as a biomarker in HPV-related p16-positive oropharyngeal cancer by assessing 25 patients with p16-positive oropharyngeal cancer. Blood samples were collected from each patient at multiple time points during the treatment, and the plasma was preserved. The ctDNA was extracted from the plasma and analyzed using digital polymerase chain reaction. HPV-derived ctDNA was detected in 14 (56%) of the 25 patients. In all the patients, the samples were found to be ctDNA-negative after initial treatment. Cancer recurrence was observed in 2 of the 14 patients; HPV-derived ctDNA was detected at the time of recurrence. Our results indicate that HPV-derived ctDNA can be a prospective biomarker for predicting the recurrence of p16-positive oropharyngeal cancer.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / blood
  • Case-Control Studies
  • Circulating Tumor DNA / blood*
  • Female
  • Genes, p16
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local / blood*
  • Neoplasm Recurrence, Local / diagnostic imaging
  • Neoplasm Recurrence, Local / therapy
  • Neoplasm Recurrence, Local / virology
  • Oropharyngeal Neoplasms / blood*
  • Oropharyngeal Neoplasms / diagnostic imaging
  • Oropharyngeal Neoplasms / therapy
  • Oropharyngeal Neoplasms / virology
  • Papillomaviridae / genetics*
  • Tomography, X-Ray Computed

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA