Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India

Head and neck squamous cell carcinoma is the most commonly diagnosed cancer worldwide. The lifestyle, food habits, and customary practices manifest the Northeast Indian population toward higher susceptibility to develop head and neck squamous cell carcinoma. Here, we have investigated the associatio...

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Main Authors: Manish Kumar, Shilpee Srivastava, Seram Anil Singh, Anup Kumar Das, Ganesh Chandra Das, Bishal Dhar, Sankar Kumar Ghosh, Rosy Mondal
Format: Article
Language:English
Published: SAGE Publishing 2017-10-01
Series:Tumor Biology
Online Access:https://doi.org/10.1177/1010428317736643
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author Manish Kumar
Shilpee Srivastava
Seram Anil Singh
Anup Kumar Das
Ganesh Chandra Das
Bishal Dhar
Sankar Kumar Ghosh
Rosy Mondal
author_facet Manish Kumar
Shilpee Srivastava
Seram Anil Singh
Anup Kumar Das
Ganesh Chandra Das
Bishal Dhar
Sankar Kumar Ghosh
Rosy Mondal
author_sort Manish Kumar
collection DOAJ
description Head and neck squamous cell carcinoma is the most commonly diagnosed cancer worldwide. The lifestyle, food habits, and customary practices manifest the Northeast Indian population toward higher susceptibility to develop head and neck squamous cell carcinoma. Here, we have investigated the association of smoke and smokeless tobacco, and alcohol with copy number variation of cell-free mitochondrial DNA and cell-free nuclear DNA in cases and controls. Cell-free DNA from plasma was isolated from 50 head and neck squamous cell carcinoma cases and 50 controls with informed written consent using QIAamp Circulating Nucleic Acid Kit. Real-time polymerase chain reaction was done for copy number variation in cell-free mitochondrial DNA and cell-free nuclear DNA. Receiver operating characteristic curve analysis was performed to evaluate the diagnostic application between the two study groups using clinicopathological parameters. The levels of cell-free nuclear DNA and cell-free mitochondrial DNA of cases in association with smoke and smokeless tobacco, alcohol with smoking (p < 0.05) were significantly higher (p < 0.01 and p < 0.001, respectively) than controls. Using receiver operating characteristic curve analysis between head and neck squamous cell carcinoma cases and controls, we distinguished cell-free mitochondrial DNA (cutoff: 19.84 raw Ct; sensitivity: 84%; specificity: 100%; p < 0.001) and cell-free nuclear DNA (cutoff: 463,282 genomic equivalent/mL; sensitivity: 53%; specificity: 87%; p < 0.001). The copy number variation in cases (cell-free nuclear DNA: 5451.66 genomic equivalent/mL and cell-free mitochondrial DNA: 29,103,476.15 genomic equivalent/mL) and controls (cell-free nuclear DNA: 1650.9 genomic equivalent/mL and cell-free mitochondrial DNA: 9,189,312.54 genomic equivalent/mL), respectively. Our result indicates that the cell-free mitochondrial DNA content is highly associated with smoke and smokeless tobacco, betel quid chewing, and alcohol which shows greater promises, holding the key characteristics of diagnostic biomarkers, that is, minimal invasiveness, high specificity, and sensitivity.
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spelling doaj-art-a5dda392567c4f18a8de3d1c0dcb2b5e2025-08-20T02:54:47ZengSAGE PublishingTumor Biology1423-03802017-10-013910.1177/1010428317736643Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast IndiaManish Kumar0Shilpee Srivastava1Seram Anil Singh2Anup Kumar Das3Ganesh Chandra Das4Bishal Dhar5Sankar Kumar Ghosh6Rosy Mondal7Molecular Medicine Laboratory, Department of Biotechnology, Assam University, Silchar, IndiaMolecular Medicine Laboratory, Department of Biotechnology, Assam University, Silchar, IndiaDepartment of Applied Biology, University of Science and Technology, Meghalaya, IndiaAyursundra One Stop Medical Centre, Guwahati, IndiaAyursundra One Stop Medical Centre, Guwahati, IndiaMolecular Medicine Laboratory, Department of Biotechnology, Assam University, Silchar, IndiaUniversity of Kalyani, Kalyani, IndiaLife Sciences Division, Institute of Advanced Study in Science and Technology, Guwahati, IndiaHead and neck squamous cell carcinoma is the most commonly diagnosed cancer worldwide. The lifestyle, food habits, and customary practices manifest the Northeast Indian population toward higher susceptibility to develop head and neck squamous cell carcinoma. Here, we have investigated the association of smoke and smokeless tobacco, and alcohol with copy number variation of cell-free mitochondrial DNA and cell-free nuclear DNA in cases and controls. Cell-free DNA from plasma was isolated from 50 head and neck squamous cell carcinoma cases and 50 controls with informed written consent using QIAamp Circulating Nucleic Acid Kit. Real-time polymerase chain reaction was done for copy number variation in cell-free mitochondrial DNA and cell-free nuclear DNA. Receiver operating characteristic curve analysis was performed to evaluate the diagnostic application between the two study groups using clinicopathological parameters. The levels of cell-free nuclear DNA and cell-free mitochondrial DNA of cases in association with smoke and smokeless tobacco, alcohol with smoking (p < 0.05) were significantly higher (p < 0.01 and p < 0.001, respectively) than controls. Using receiver operating characteristic curve analysis between head and neck squamous cell carcinoma cases and controls, we distinguished cell-free mitochondrial DNA (cutoff: 19.84 raw Ct; sensitivity: 84%; specificity: 100%; p < 0.001) and cell-free nuclear DNA (cutoff: 463,282 genomic equivalent/mL; sensitivity: 53%; specificity: 87%; p < 0.001). The copy number variation in cases (cell-free nuclear DNA: 5451.66 genomic equivalent/mL and cell-free mitochondrial DNA: 29,103,476.15 genomic equivalent/mL) and controls (cell-free nuclear DNA: 1650.9 genomic equivalent/mL and cell-free mitochondrial DNA: 9,189,312.54 genomic equivalent/mL), respectively. Our result indicates that the cell-free mitochondrial DNA content is highly associated with smoke and smokeless tobacco, betel quid chewing, and alcohol which shows greater promises, holding the key characteristics of diagnostic biomarkers, that is, minimal invasiveness, high specificity, and sensitivity.https://doi.org/10.1177/1010428317736643
spellingShingle Manish Kumar
Shilpee Srivastava
Seram Anil Singh
Anup Kumar Das
Ganesh Chandra Das
Bishal Dhar
Sankar Kumar Ghosh
Rosy Mondal
Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
Tumor Biology
title Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
title_full Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
title_fullStr Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
title_full_unstemmed Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
title_short Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India
title_sort cell free mitochondrial dna copy number variation in head and neck squamous cell carcinoma a study of non invasive biomarker from northeast india
url https://doi.org/10.1177/1010428317736643
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