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

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 c...

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Bibliographic Details
Published in:PloS one 2021-09, Vol.16 (9), p.e0256979-e0256979
Main Authors: Cui, Ying, Kim, Hae-Suk, Cho, Eunae Sandra, Han, Dawool, Park, Jung Ah, Park, Ju Yeong, Nam, Woong, Kim, Hyung Jun, Cha, In-Ho, Cha, Yong Hoon
Format: Article
Language:English
Subjects:
Biology and Life Sciences
Biopsy
Blood
Cancer
Dental materials
Dentistry
Deoxyribonucleic acid
DNA
DNA sequencing
Feasibility
Gene frequency
Gene mutations
Genetic analysis
Genetic aspects
Genetic testing
Genomes
Head & neck cancer
Head and neck cancer
Health aspects
Identification and classification
Maxillofacial surgery
Medical diagnosis
Medical examination
Medical research
Medicine and Health Sciences
Mouth cancer
Mutation
Next-generation sequencing
Nucleotide sequencing
Oral cancer
Oral carcinoma
Oral squamous cell carcinoma
Patients
Plasma
Saliva
Salivary diagnostics
Squamous cell carcinoma
Surveillance
Tissue analysis
Tumors
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0256979