Cell-free mitochondrial DNA as a novel non-invasive biomarker for oral cancer

Balachander, Kannan; Paramasivam, Arumugam

doi:10.1016/j.oraloncology.2022.105825

Cited by 11 publications

(9 citation statements)

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“…24 Noteworthy, it has been proposed that cf-mtDNA has a distinct benefit over cfDNA due to its shorter length and more straightforward organisation. 12 Due to the mitochondrial DNA's location near the mitochondrion's inner membrane, it is highly susceptible to damage by reactive oxygen species and mutagens, making cf-mtDNA easy to identify in liquid samples with low DNA yields. 12 This may also explain the significant increase in the quantity of cf-mtDNA, but not cfDNA, among smokers compared to nonsmokers.…”

Section: Discussionmentioning

confidence: 99%

“…The haematopoietic system is responsible for releasing cfDNA in the plasma of healthy individuals, 10,11 while the presence of certain physiological or pathological conditions, such as pregnancy or malignancy, releases additional cfDNA into body fluids 11 . Thus, the detection of cfDNA provides a unique tool to identify abnormalities in a minimally or noninvasive manner 11,12 . In cancer patients, tumour cells contribute to cfDNA by releasing circulating‐tumour DNA (ctDNA), where tumour genetic aberrations like mutations and epigenetic alterations can be detected in cfDNA using next‐generation sequencing 8 .…”

Section: Introductionmentioning

confidence: 99%

“…Though cfDNA has genomic DNA origin, there is another contributor to cfDNAs with its genome, mitochondria 12 . Cell‐free mitochondrial DNA (cf‐mtDNA) are short sections of mitochondrial DNA released by cells undergoing stress or pathological changes 12 .…”

Section: Introductionmentioning

confidence: 99%

“…13,14 Though cfDNA has genomic DNA origin, there is another contributor to cfDNAs with its genome, mitochondria. 12 Cell-free mitochondrial DNA (cf-mtDNA) are short sections of mitochondrial DNA released by cells undergoing stress or pathological changes. 12 Previous studies found that cf-mtDNA is a more efficient marker than cfDNA in detecting cancer patients, 12,15 while the specificity of quantifying cf-mtDNA was up to 97% in identifying patients with urologic malignancies.…”

Section: Introductionmentioning

confidence: 99%

“…12 Cell-free mitochondrial DNA (cf-mtDNA) are short sections of mitochondrial DNA released by cells undergoing stress or pathological changes. 12 Previous studies found that cf-mtDNA is a more efficient marker than cfDNA in detecting cancer patients, 12,15 while the specificity of quantifying cf-mtDNA was up to 97% in identifying patients with urologic malignancies. 15 Literature included limited, and in some instances contradicted, information about the profile and the diagnostic utilities of cfDNA and cf-mtDNA in HNSCC.…”

Section: Introductionmentioning

confidence: 99%

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Saliva‐based cell‐free DNA and cell‐free mitochondrial DNA in head and neck cancers have promising screening and early detection role

Sayal

Hamadah²,

Almasri

et al. 2022

J Oral Pathology Medicine

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Background: Cell-free DNA (cfDNA) and cell-free mitochondrial DNA (cf-mtDNA) have been postulated as potential diagnostic and prognostic biomarkers for different human malignancies. Early detection of head and neck malignancies is fundamental for optimal patient management. This study, therefore, aimed to assess the utility of saliva-based liquid biopsy as a noninvasive source of cfDNA and cf-mtDNA for detecting head and neck cancer (HNSCC).Methods: One hundred thirty-three patients diagnosed with either oral leukoplakia (OLK) or HNSCC were compared with 137 healthy volunteers. An unstimulated whole saliva sample was collected from each participant. The absolute copy numbers of salivary cf-mtDNA and cfDNA were quantified using Multiplex Quantitative PCR.Two diagnostic indices based on the investigated molecules were assessed for their ability to differentiate between different diagnostic categories. Results:The median scores of cfDNA and cf-mtDNA were statistically significantly higher among HNSCC patients (p < 0.05), revealing area under the curve values of 0.758 and 0.826, respectively. The associated accuracy for this test in discriminating HNSCC from other diagnostic categories was 77.37% for the cfDNA-based index and 80.5% for the cf-mtDNA-based index. The median score of cfDNA was statistically significantly higher for patients with severe epithelial dysplasia (OED) compared to those with epithelial keratosis with no OED and mild OED. However, there was no significant difference between controls and OLK individuals.Conclusion: cfDNA and cf-mtDNA showed potential for use as precision medicine tools to detect HNSCC. Further multi-centre prospective studies are warranted to assess the prognostic utility of these molecules.

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Section: Discussionmentioning

confidence: 99%