Cell-free DNA hypermethylated genes may have a limited role in cancer screening but a potential role in risk assessment of head and neck cancer

Wei Liu; Tong Ji; Chenping Zhang; Qin Zhou; Zhexuan Bao

doi:10.1016/j.oraloncology.2022.106129

Cell-free DNA hypermethylated genes may have a limited role in cancer screening but a potential role in risk assessment of head and neck cancer

Oral Oncol. 2022 Nov:134:106129. doi: 10.1016/j.oraloncology.2022.106129. Epub 2022 Oct 3.

Authors

Wei Liu¹, Tong Ji², Chenping Zhang³, Qin Zhou⁴, Zhexuan Bao⁵

Affiliations

¹ Department of Oral and Maxillofacial-Head and Neck Oncology, Fengcheng Hospital of Fengxian District, Shanghai Ninth People's Hospital Fengcheng Branch Hospital, Shanghai, China; College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
² College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
³ College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: zhang_cping@163.com.
⁴ College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: zhouq112012@sh9hospital.org.cn.
⁵ Guangzhou Key Laboratory of Basic and Applied Research of Oral Regenerative Medicine, Department of Oral Medicine, Guangdong Engineering Research Center of Oral Restoration and Reconstruction, Affiliated Stomatology Hospital of Guangzhou Medical University, Guangzhou, China. Electronic address: baozhexuan@163.com.

PMID: 36202068
DOI: 10.1016/j.oraloncology.2022.106129

Abstract

Cell-free DNA (cfDNA) hypermethylation in blood-based liquid biopsy is an attractive, minimally invasive biomarker for head and neck cancer (HNC) diagnosis and risk assessment. Yet, there is a lack of adequate description and discussion on this issue. A total of 10 eligible case-control studies containing 26 different hypermethylated genes in cfDNA were retrieved. There were 2026 HNC patients and 3149 healthy individuals for determining various hypermethylated genes in cfDNA. The pooled diagnostic parameter of sensitivity, specificity, and diagnostic accuracy value (95% confidence interval) was 33.2% (31.2-35.3%), 93.3% (92.3-94.1%), and 69.8% (68.5-71.0%), respectively. Odds ratios analysis revealed that SHOX2, SEPT, HIC1, CDKN2A, and CALML5 were significantly associated with increased risk of HNC development. Collectively, cfDNA hypermethylation biomarkers had a high specificity but accompanied by a low sensitivity for HNC detection, which might have a limited role in cancer screening but a potential role in risk assessment of HNC.

Keywords: Circulating tumor DNA; DNA methylation; Head and neck squamous cell carcinomas; Liquid biopsy; Peripheral blood.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers, Tumor / genetics
Cell-Free Nucleic Acids* / genetics
DNA Methylation
Early Detection of Cancer
Head and Neck Neoplasms* / diagnosis
Head and Neck Neoplasms* / genetics
Humans
Risk Assessment
Sensitivity and Specificity

Substances

Biomarkers, Tumor
Cell-Free Nucleic Acids