Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas

PLoS One. 2021 Sep 3;16(9):e0256979. doi: 10.1371/journal.pone.0256979. eCollection 2021.

Abstract

Purposes: Although clinical and radiological examinations can be used to diagnose oral cancer, and surgical pathology remains the gold standard, these conventional methods have limitations. We evaluated the feasibility of longitudinal next-generation sequencing-based liquid biopsy for oral squamous cell carcinoma surveillance.

Materials and methods: Eleven patients were enrolled, and plasma and saliva were collected before, and 1, 3, and 6 months after surgery. Tumor-specific mutations were selected using paired, whole-exome analyses of tumor tissues and whole blood. Genes frequently mutated in head and neck cancer were identified using the Cancer Genome Atlas (TCGA) and Catalogue of Somatic Mutations in Cancer (COSMIC) databases to design targeted deep sequencing panels.

Results: In five of the six patients with recurrent cancer, circulating tumor DNA (ctDNA) was detected earlier with liquid biopsy than with conventional monitoring techniques. Moreover, patients without recurrence exhibited decreased ctDNA allele frequency post-treatment.

Conclusions: Longitudinal liquid biopsy of plasma and saliva may be feasible for detecting somatic mutations associated with oral squamous cell carcinomas. It might be attributable to determine early tumor recurrence through genetic analysis of ctDNA.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Biomarkers, Tumor / metabolism
  • Carcinoma, Squamous Cell* / diagnosis
  • Carcinoma, Squamous Cell* / metabolism
  • Circulating Tumor DNA / metabolism*
  • Female
  • Humans
  • Liquid Biopsy / methods*
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Mouth Neoplasms* / diagnosis
  • Mouth Neoplasms* / metabolism
  • Neoplasm Recurrence, Local
  • Saliva / metabolism

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA

Grants and funding

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean Government (MSIT) (No. 2018R1C1B600445813). The funder provided support in the form of salaries for author YC, but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Theragen Bio., Ltd. provided support in the form of salaries for authors HSK, JAP and JYP, but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. There are no patents, products in development, or marketed products to declare.