A 13-Gene DNA Methylation Analysis Using Oral Brushing Specimens as an Indicator of Oral Cancer Risk: A Descriptive Case Report

Abstract

Analysis of genetic or epigenetic markers from saliva or brushing specimens has been proposed as a diagnostic aid to identify patients at risk of developing oral cancer. However, no reliable non-invasive molecular method for this purpose is commercially available. In the present report, we describe the potential application of a procedure based on a 13-gene DNA methylation analysis using oral brushing samples from a patient affected by oral leukoplakia who developed two metachronous oral carcinomas during the follow-up period. A positive or a negative score was calculated for each brushing sample based on a predefined cut-off value. In this patient, a positive score was detected in the oral leukoplakia diagnosed more than 2 years before the development of oral squamous cell carcinoma and subsequently in clinically healthy mucosa 8 months before the appearance of a secondary tumor. This suggests a potential role of our procedure as an indicator of oral cancer risk.

Focus on DNA methylation in saliva and oral swabs for oral potentially malignant disorder diagnosis

“…More importantly, the potential role of DNA methylation in the prediction of cancer onset was reported. The 13-gene panel significantly predicted 1 case of oral leukoplakia progression to malignant transformation and secondary OSCC (Rossi et al, 2022). Also, a follow-up study validated that the ZNF582 and PAX1 methylation had a higher incidence and hazard ratio of malignant progression in OPMDs patients (Juan et al, 2021).…”

Thirteen‐gene DNA methylation analysis of oral brushing samples: A potential surveillance tool for periodic monitoring of treated patients with oral cancer

“…So far, the prognostic role of the analysis of epigenetic alterations performed longitudinally multiple times was described in a single case report: epigenetic alterations in 13‐gene DNA methylation analysis were both found in a non‐dysplastic oral leukoplakia that after 2 years transformed in OSCC and in the regenerative oral mucosa at 6 months after the resection of the primary OSCC before the development of a secondary OSCC. By contrast, oral brushing samples from the regenerative oral mucosa at 6 months after surgical resection for the secondary oral cancer did not show epigenetic alterations and the patient didn't develop further neoplastic manifestations 18 …”

“…For patients having early stage of disease, only clinical assessment was performed; imaging was reserved for patients having local symptoms or suspect of local relapse. This study included some patients included in previous studies 17,18 …”

“…By contrast, oral brushing samples from the regenerative oral mucosa at 6 months after surgical resection for the secondary oral cancer did not show epigenetic alterations and the patient didn't develop further neoplastic manifestations. 18 In the present study, the 13-gene DNA methylation analysis on oral brushing samples was collected at different times during the oncologic follow-up of patients surgically treated for OSCC.…”

Circulating Long Non-Coding RNAs Could Be the Potential Prognostic Biomarker for Liquid Biopsy for the Clinical Management of Oral Squamous Cell Carcinoma

“…Saliva is one of the important, non-invasive sampling sources in OSCC diagnostics. In this regard, less invasive oral swab/brush-biopsy/scalpel/scraper biopsy methods are also very important sampling sources that are used to identify lncRNA biomarkers for OSCC diagnostics and prognostics [ 181 , 182 ]. Several investigators have shown that an array of ncRNAs were identified in saliva samples, and they suggested their clinical implications in OSCC [ 79 , 117 , 183 , 184 ].…”