Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma

Background Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early det...

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Veröffentlicht in:The International journal of biological markers 2017-07, Vol.32 (3), p.313-318
Hauptverfasser: Elsayed, Eman T., Hashad, Mohamed M., Elgohary, Iman E.
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container_title The International journal of biological markers
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creator Elsayed, Eman T.
Hashad, Mohamed M.
Elgohary, Iman E.
description Background Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of renal cell carcinoma (RCC) in a cohort of Egyptian patients. Methods Quantitative real-time polymerase chain reaction (qPCR) was used to measure peripheral blood mtDNA copy numbers in 57 patients with newly diagnosed, early-stage localized RCC and 60 age- and sex-matched healthy individuals as a control group. Results Median mtDNA copy number was significantly higher in RCC cases than in controls (166 vs. 91, p
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The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of renal cell carcinoma (RCC) in a cohort of Egyptian patients. Methods Quantitative real-time polymerase chain reaction (qPCR) was used to measure peripheral blood mtDNA copy numbers in 57 patients with newly diagnosed, early-stage localized RCC and 60 age- and sex-matched healthy individuals as a control group. Results Median mtDNA copy number was significantly higher in RCC cases than in controls (166 vs. 91, p&lt;0.001). Increased mtDNA copy number was associated with an 18-fold increased risk of RCC (95% confidence interval: 5.065-63.9). On receiver operating characteristic curve analysis, it was found that mtDNA could distinguish between RCC patients and healthy controls, with 86% sensitivity, 80% specificity, 80.3% positive predictive value and 85.7% negative predictive value at a cutoff value of 108.5. Conclusions Our results showed that increased peripheral blood mtDNA copy number was associated with increased risk of RCC. Therefore, RCC might be considered as part of a range of potential tumors in cases with elevated blood mtDNA copy number.</description><identifier>ISSN: 1724-6008</identifier><identifier>ISSN: 0393-6155</identifier><identifier>EISSN: 1724-6008</identifier><identifier>DOI: 10.5301/ijbm.5000268</identifier><identifier>PMID: 28497457</identifier><language>eng</language><publisher>London, England: SAGE Publications</publisher><subject>Aged ; Carcinoma, Renal Cell - genetics ; Carcinoma, Renal Cell - pathology ; DNA Copy Number Variations ; DNA, Mitochondrial - genetics ; Female ; Humans ; Kidney Neoplasms - genetics ; Kidney Neoplasms - pathology ; Male ; Middle Aged ; Predictive Value of Tests ; Real-Time Polymerase Chain Reaction</subject><ispartof>The International journal of biological markers, 2017-07, Vol.32 (3), p.313-318</ispartof><rights>2017 SAGE Publications</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c363t-4620f9c3b93005018b5b0902fc90ebba1b4ca7889ec53f92f3f2bea85cbe6c793</citedby><cites>FETCH-LOGICAL-c363t-4620f9c3b93005018b5b0902fc90ebba1b4ca7889ec53f92f3f2bea85cbe6c793</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.5301/ijbm.5000268$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.5301/ijbm.5000268$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,780,784,21966,27853,27924,27925,44945,45333</link.rule.ids><linktorsrc>$$Uhttps://journals.sagepub.com/doi/full/10.5301/ijbm.5000268?utm_source=summon&amp;utm_medium=discovery-provider$$EView_record_in_SAGE_Publications$$FView_record_in_$$GSAGE_Publications</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28497457$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Elsayed, Eman T.</creatorcontrib><creatorcontrib>Hashad, Mohamed M.</creatorcontrib><creatorcontrib>Elgohary, Iman E.</creatorcontrib><title>Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma</title><title>The International journal of biological markers</title><addtitle>Int J Biol Markers</addtitle><description>Background Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of renal cell carcinoma (RCC) in a cohort of Egyptian patients. Methods Quantitative real-time polymerase chain reaction (qPCR) was used to measure peripheral blood mtDNA copy numbers in 57 patients with newly diagnosed, early-stage localized RCC and 60 age- and sex-matched healthy individuals as a control group. Results Median mtDNA copy number was significantly higher in RCC cases than in controls (166 vs. 91, p&lt;0.001). Increased mtDNA copy number was associated with an 18-fold increased risk of RCC (95% confidence interval: 5.065-63.9). On receiver operating characteristic curve analysis, it was found that mtDNA could distinguish between RCC patients and healthy controls, with 86% sensitivity, 80% specificity, 80.3% positive predictive value and 85.7% negative predictive value at a cutoff value of 108.5. Conclusions Our results showed that increased peripheral blood mtDNA copy number was associated with increased risk of RCC. Therefore, RCC might be considered as part of a range of potential tumors in cases with elevated blood mtDNA copy number.</description><subject>Aged</subject><subject>Carcinoma, Renal Cell - genetics</subject><subject>Carcinoma, Renal Cell - pathology</subject><subject>DNA Copy Number Variations</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Kidney Neoplasms - genetics</subject><subject>Kidney Neoplasms - pathology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Predictive Value of Tests</subject><subject>Real-Time Polymerase Chain Reaction</subject><issn>1724-6008</issn><issn>0393-6155</issn><issn>1724-6008</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkE1LAzEQhoMotlZvniVHBVsnm_1IjmX9hFqLqHgLSZrolu6mJruH_ntTWsWDl5nh5eFleBA6JTDKKJCraqHqUQYASc72UJ8USTrMAdj-n7uHjkJYRIRAkR-iXsJSXqRZ0Ufvj1Xr9Kdr5r6SS3w9HePSrdZ42tXKePwmY9xWrsEyYIlnrjVNuwFn3swr3TqPncXPpolRaZZxSK-rxtXyGB1YuQzmZLcH6PX25qW8H06e7h7K8WSoaU7bYZonYLmmilOADAhTmQIOidUcjFKSqFTLgjFudEYtTyy1iTKSZVqZXBecDtD5tnfl3VdnQivqKuj4imyM64IgjHNCclaQiF5uUe1dCN5YsfJVLf1aEBAbl2LjUuxcRvxs19yp2sx_4R95EbjYAkF-GLFwnY8awv9l37vpfFM</recordid><startdate>20170701</startdate><enddate>20170701</enddate><creator>Elsayed, Eman T.</creator><creator>Hashad, Mohamed M.</creator><creator>Elgohary, Iman E.</creator><general>SAGE Publications</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20170701</creationdate><title>Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma</title><author>Elsayed, Eman T. ; Hashad, Mohamed M. ; Elgohary, Iman E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c363t-4620f9c3b93005018b5b0902fc90ebba1b4ca7889ec53f92f3f2bea85cbe6c793</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Aged</topic><topic>Carcinoma, Renal Cell - genetics</topic><topic>Carcinoma, Renal Cell - pathology</topic><topic>DNA Copy Number Variations</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Kidney Neoplasms - genetics</topic><topic>Kidney Neoplasms - pathology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Predictive Value of Tests</topic><topic>Real-Time Polymerase Chain Reaction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Elsayed, Eman T.</creatorcontrib><creatorcontrib>Hashad, Mohamed M.</creatorcontrib><creatorcontrib>Elgohary, Iman E.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The International journal of biological markers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Elsayed, Eman T.</au><au>Hashad, Mohamed M.</au><au>Elgohary, Iman E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma</atitle><jtitle>The International journal of biological markers</jtitle><addtitle>Int J Biol Markers</addtitle><date>2017-07-01</date><risdate>2017</risdate><volume>32</volume><issue>3</issue><spage>313</spage><epage>318</epage><pages>313-318</pages><issn>1724-6008</issn><issn>0393-6155</issn><eissn>1724-6008</eissn><abstract>Background Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of renal cell carcinoma (RCC) in a cohort of Egyptian patients. Methods Quantitative real-time polymerase chain reaction (qPCR) was used to measure peripheral blood mtDNA copy numbers in 57 patients with newly diagnosed, early-stage localized RCC and 60 age- and sex-matched healthy individuals as a control group. Results Median mtDNA copy number was significantly higher in RCC cases than in controls (166 vs. 91, p&lt;0.001). Increased mtDNA copy number was associated with an 18-fold increased risk of RCC (95% confidence interval: 5.065-63.9). On receiver operating characteristic curve analysis, it was found that mtDNA could distinguish between RCC patients and healthy controls, with 86% sensitivity, 80% specificity, 80.3% positive predictive value and 85.7% negative predictive value at a cutoff value of 108.5. Conclusions Our results showed that increased peripheral blood mtDNA copy number was associated with increased risk of RCC. Therefore, RCC might be considered as part of a range of potential tumors in cases with elevated blood mtDNA copy number.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>28497457</pmid><doi>10.5301/ijbm.5000268</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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subjects Aged
Carcinoma, Renal Cell - genetics
Carcinoma, Renal Cell - pathology
DNA Copy Number Variations
DNA, Mitochondrial - genetics
Female
Humans
Kidney Neoplasms - genetics
Kidney Neoplasms - pathology
Male
Middle Aged
Predictive Value of Tests
Real-Time Polymerase Chain Reaction
title Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma
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