Mitochondrial D-loop variants and copy number alterations in saliva of basaloid squamous cell carcinoma patient: Can it be worth as a prognostic value? Case report.

INTRODUCTION

In the era of precision medicine, cell-free DNA (cfDNA) in saliva biopsies has emerged as a promising tool for cancer detection. The effects of D-loop variants, including D310, and circulating cell-free DNA (ccfDNA) copy number alterations in basaloid squamous cell carcinoma (BSCC) are poorly understood, so we conducted this research.

CASE PRESENTATION

We investigated the role of somatic variants of the D-loop region and copy number alterations in salivary ccfDNA of BSCC patients by using direct sequencing and real-time quantitative PCR. Mononucleotide repeat sequence between nucleotides 303 and 316-318 (D310) was identified in the mitochondrial DNA (mtDNA). Oxidative stress was elevated as well. We observed an increase in mtDNA copy number and homopolymeric C repeats in the mtDNA region (D310). An increase in mtDNA copy number may be an important event during the early phases of head and neck carcinogenesis.

CLINICAL DISCUSSION

This research examines the role of mitochondrial D-loop mutations and copy number changes in saliva of basaloid squamous cell carcinoma (BSCC) patients and their utility as prognostic markers. This article highlights how cell-free DNA in saliva can be utilized for cancer detection and identifies some mitochondrial DNA characteristics like D310. There's a suggested association between elevated mtDNA copy numbers and early stages of head and neck cancer development.

CONCLUSION

Salivary ccfDNA could serve as a novel and easily accessible non-invasive biomarker in BSCC, providing diagnostic and prognostic value.