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

Ying Cui, Hae Suk Kim, Eunae Sandra Cho, Dawool Han, Jung Ah Park, Ju Yeong Park, Woong Nam, Hyung Jun Kim, In Ho Cha, Yong Hoon Cha

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14 Citations (Scopus)


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.

Original languageEnglish
Article numbere0256979
JournalPloS one
Issue number9 September
Publication statusPublished - 2021 Sept

Bibliographical note

Publisher Copyright:
© 2021 Cui et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

All Science Journal Classification (ASJC) codes

  • General


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