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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 
 PLOS ONE, Vol.16(9) : e0256979, 2021-09 
Journal Title
Issue Date
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
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.
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2. College of Dentistry (치과대학) > Dept. of Oral Pathology (구강병리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral and Maxillofacial Surgery (구강악안면외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hyung Jun(김형준) ORCID logo https://orcid.org/0000-0001-8247-4004
Nam, Woong(남웅) ORCID logo https://orcid.org/0000-0003-0146-3624
Cho, Eunae(조은애산드라) ORCID logo https://orcid.org/0000-0002-0820-3019
Cha, Yong Hoon(차용훈) ORCID logo https://orcid.org/0000-0003-1761-3260
Cha, In Ho(차인호) ORCID logo https://orcid.org/0000-0001-8259-2190
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