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Advances in the Genetic Diagnosis of Hereditary Paragangliomas – Epidemiology
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id="primary"> <main class="site-main" id="main"> <article id="post-84" class="post-84 post type-post status-publish format-standard has-post-thumbnail hentry category-genetic-diagnosis tag-genetic-counseling tag-genetic-testing tag-hereditary-paragangliomas tag-hif-pathway tag-pseudo-hypoxia tag-renal-cell-carcinoma tag-sdh-mutations tag-tumorigenesis" itemtype="https://schema.org/CreativeWork" itemscope> <div class="inside-article"> <div class="featured-image page-header-image-single "> <img width="1200" height="628" src="https://epidemiology.blog/archive/wp-content/uploads/2024/11/banner-30-1-min-scaled-e1732617059443.jpg" class="attachment-full size-full" alt="" itemprop="image" decoding="async" fetchpriority="high" /> </div> <header class="entry-header"> <h1 class="entry-title" itemprop="headline">Advances in the Genetic Diagnosis of Hereditary Paragangliomas</h1> <div class="entry-meta"> <span class="posted-on"><time class="entry-date published" datetime="2024-11-26T16:01:32+05:30" itemprop="datePublished">November 26, 2024</time></span> <span class="byline">by <span class="author vcard" itemprop="author" itemtype="https://schema.org/Person" itemscope><a class="url fn n" href="https://epidemiology.blog/archive/author/epidemiology/" title="View all posts by epidemiology" rel="author" itemprop="url"><span class="author-name" itemprop="name">epidemiology</span></a></span></span> </div> </header> <div class="entry-content" itemprop="text"> <p><span style="font-weight: 400;">Paragangliomas (PGLs) are rare and seldom malignant tumors affecting the paraganglia, which is a group of neuroendocrine cells found in many locations across the human body. These tumors can occur in several anatomic locations, and predominant involvement is in the head, neck, and thorax regions. These are actively growing structures that are vascularised and very relevant because they are premalignant conditions. There is a significant focus on understanding the role of genetics in the development of hereditary paragangliomas, and some of the genes that probably contribute to the development of these diseases have been identified. In this regard, germline mutations in the succinate dehydrogenase (SDH) genes have been identified to yield a profound understanding of the molecular basis of PGLs. The improvement of molecular biology techniques has not only improved diagnostics but has also enriched our knowledge of the disease’s pathophysiology. In this blog, we present a review of the principal molecular accomplishments made in the identification of hereditary paragangliomas, as well as the impact of these specific mutations.</span></p> <h4><b>Genetic Foundations of Hereditary Paragangliomas</b></h4> <p><span style="font-weight: 400;">The succinate dehydrogenase complex is affected by genetic changes that are linked to hereditary paragangliomas. This complex is a part of both the Krebs cycle and the electron transport chain. The SDH complex consists of four subunits: the four known subtypes of SDHA, SDHB, SDHC, and SDHD, which are recognized to be encoded by individual genes. Loss of function of any of these proteins causes failure in the proper working of the SDH complex and an abnormal cell process that may lead to tumorigenesis.</span></p> <p><b>SDHB Mutations:</b><span style="font-weight: 400;"> Of all the SDH genes, the cut that stands out most significantly is the SDHB. SDHB mutations cause PGLs at various body sites and are likely to cause cancer. Mutations in the SDHB gene can affect susceptibility for paragangliomas such as pheochromocytomas, which occur in the abdomen and are derived from the adrenal gland. These tumors can secrete more than normal amounts of catecholamines and thus present with symptoms such as hypertension, palpitations, and headache. The malignancy of SDHB-related tumors suggests that early genetic identification is of paramount importance for patient care.</span></p> <p><b>SDHC Mutations:</b><span style="font-weight: 400;"> Mutations in the SDHC gene also occur, though in a smaller number of people with hereditary paragangliomas. These mutations are more often linked with tumors at the top of the head and in the neck region. Although mutations in the SDHB gene are less likely to cause malignancy, SDHC gene mutations still pose risks and require close monitoring. The fact that SDHC mutations are rare can occasionally complicate a diagnosis; however, in recent years, the advent of mutational analysis has facilitated quicker detection of SDHC mutations and thus improved the surveillance strategy.</span></p> <p><b>SDHD Mutations:</b><span style="font-weight: 400;"> SDHD is associated most commonly with paragangliomas localized in the head and neck area, like SDHC. However, SDHD is mutually special because of its parent-of-origin effect, where paternal transmission of the mutation is more potent in causing tumor formation than maternal one. This is a clear example of showing that hereditary paragangliomas are not as straightforward as was initially thought, and proper assessment of inheritance is crucial in genetic diagnosis.</span></p> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Yearwise Publication Trend on <b>“<a href="https://epidemiology.blog/publication-trends/index/genetic diagnosis" target="_blank" title="genetic diagnosis - yearwise publication trends">genetic diagnosis</a>”</b></h2> </div> </div><div class="results-container"><div class="chart-block" style="padding:15px;"> <div class="left"> <div id="results" class="results"></div> </div> <div class="right"> <div class="chart-container"><canvas id="publicationChart"></canvas></div> </div> <div class="keywordsdiv"> <div style="text-align:center;"><b>Find publication trends on relevant topics</b> </div> <span class="gp-icon icon-tags"><svg viewBox="0 0 512 512" aria-hidden="true" xmlns="http://www.w3.org/2000/svg" width="1em" height="1em"><path d="M20 39.5c-8.836 0-16 7.163-16 16v176c0 4.243 1.686 8.313 4.687 11.314l224 224c6.248 6.248 16.378 6.248 22.626 0l176-176c6.244-6.244 6.25-16.364.013-22.615l-223.5-224A15.999 15.999 0 00196.5 39.5H20zm56 96c0-13.255 10.745-24 24-24s24 10.745 24 24-10.745 24-24 24-24-10.745-24-24z"></path><path d="M259.515 43.015c4.686-4.687 12.284-4.687 16.97 0l228 228c4.686 4.686 4.686 12.284 0 16.97l-180 180c-4.686 4.687-12.284 4.687-16.97 0-4.686-4.686-4.686-12.284 0-16.97L479.029 279.5 259.515 59.985c-4.686-4.686-4.686-12.284 0-16.97z"></path></svg></span> <span id="keyword-stats"></span> </div> </div></div></div><div class="inside-article"><style> table { margin: 0 0 1.5em; 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In the Krebs cycle, the SDH complex usually helps speed up the process of turning succinate into fumarate. Nevertheless, gain-of-function mutations in any of the SDH subunits cause survival of succinate that have a propensity to inhibit succinate dehydrogenase, prolyl hydroxylase enzymes that are involved in the destabilization of hypoxia-inducible factor (HIF). However, in normal oxygen concentration, HIF is targeted to be degraded with the help of the ubiquitin-proteasome system. However, overproduction of succinate prevents HIF degradation, thereby inducing hypoxic signaling pathways even under normal oxygen concentrations. This pseudo-hypoxic state leads to angiogenesis, changes in the oxidation profile, and cell division, all of which are characteristic features of tumorigenesis.</span></p> <p><span style="font-weight: 400;">The discovery of this pseudo-hypoxic pathway was critical in elucidating the molecular link between SDH mutations and paraganglioma development. It has also revealed new opportunities for putative therapeutic applications as the well-known HIF pathway may be used for tumor therapy associated with SDH mutations.</span></p> <h4><b>The Role of SDH in Non-Paraganglial Tumors</b></h4> <p><span style="font-weight: 400;">Although SDH gene mutations are more related to paragangliomas, recent studies found that they may also cause other types of neoplasms. For instance, SDHB is associated with GIST, which is a mesenchymal tumor that originates in the gastrointestinal tract. Likewise, SDHA and SDHC gene mutations are reported in renal cell carcinoma, especially in patients with hereditary paraganglioma syndromes. These results go beyond what we’ve seen with paragangliomas and show that people with SDH-related tumors need to have germline mutations related to SDH.</span></p> <h4><b>Advancement in Genetic Testing</b></h4> <p><span style="font-weight: 400;">Next-generation sequencing (NGS) and other high-throughput genetic testing methods have significantly transformed the diagnosis of hereditary paragangliomas. With NGS, genes can be analyzed in batches, allowing for simultaneous testing of mutations in SDHA, SDHB, SDHC, and SDHD. Some of the benefits include increased effectiveness in diagnosing paragangliomas without having to order more tests; the method also aids in upgrading the precision of risk assessment in families with hereditary paragangliomas.</span></p> <p><span style="font-weight: 400;">Furthermore, genetic testing enables the identification of individuals carrying the SDH mutation, even in cases where tumors have not yet manifested. In relation to that, it has a significant impact in detection and prevention, where people having a known mutation can be monitored frequently for the growth of tumors. In some circumstances, chemoprevention, surgery, or medications might be used in an effort to prevent malignancy.</span></p> <p><span style="font-weight: 400;">Besides NGS, other high-tech diagnostic tools, including biochemical assays and functional studies, have been used to test for SDH activity. These tests can help to corroborate that pathogenic mutations have occurred, as well as provide further information regarding the functional impacts of such mutations. For instance, biochemical assays that detect the levels of succinate and fumarate can help determine the activity of SDH and the presence or lack of pseudohypoxia in tumor cells.</span></p> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Recent Publications on <b>“<a href="https://epidemiology.blog/recent-publications/index/genetic diagnosis" target="_blank" rel="noopener" title="genetic diagnosis - yearwise publication list">genetic diagnosis</a>”</b></h2> </div> </div> <div class="pb-main"><div class="article-scroll"><div id="results_recent" class="results"></div></div><div class="keywordsdiv" style="margin: 0px 15px;margin-top:20px;"> <div style="text-align:center;"><b>Find publications on relevant topics</b> </div> <span class="gp-icon icon-tags"><svg viewBox="0 0 512 512" aria-hidden="true" xmlns="http://www.w3.org/2000/svg" width="1em" height="1em"><path d="M20 39.5c-8.836 0-16 7.163-16 16v176c0 4.243 1.686 8.313 4.687 11.314l224 224c6.248 6.248 16.378 6.248 22.626 0l176-176c6.244-6.244 6.25-16.364.013-22.615l-223.5-224A15.999 15.999 0 00196.5 39.5H20zm56 96c0-13.255 10.745-24 24-24s24 10.745 24 24-10.745 24-24 24-24-10.745-24-24z"></path><path d="M259.515 43.015c4.686-4.687 12.284-4.687 16.97 0l228 228c4.686 4.686 4.686 12.284 0 16.97l-180 180c-4.686 4.687-12.284 4.687-16.97 0-4.686-4.686-4.686-12.284 0-16.97L479.029 279.5 259.515 59.985c-4.686-4.686-4.686-12.284 0-16.97z"></path></svg></span> <span id="keyword-papers"></span> </div></div></div><div class="inside-article"> <style> .pb-main{ border: solid 1px #ccc; border-top: none; margin-bottom: 20px; padding-bottom: 25px; background:#fff; } .author-main { border: solid 1px #ccc; border-top: none; margin-bottom: 20px; padding-bottom: 25px; background:#fff; } .publication-block { padding: 10px; margin-bottom: 10px; background-color: #f9f9f9; text-align: left; background: #FFF; border-bottom: solid 1px #ccc; margin-left: 15px; margin-right: 15px; } .publication-block h3 { margin: 0 0 10px; color: #000!important; } .publication-block a { font-size: 16px !important; line-height: 1em; font-weight: 600; text-transform: none; color: #000; padding: 0px; } .publication-block a:hover{ color: #227cdc; text-decoration:underline; } .article-scroll { max-height: 445px; overflow-y: auto; overflow-x: hidden; } ::-webkit-scrollbar-track { -webkit-box-shadow: inset 0 0 6px rgba(0,0,0,0.3); background-color: #efefef; border-radius:30px; } ::-webkit-scrollbar { width: 6px; background-color: #efefef; border-radius:30px; } ::-webkit-scrollbar-thumb { background-color: #ababab; 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publicationBlock.innerHTML = publicationHTML; resultsContainer.appendChild(publicationBlock); }); } function displayKeywordPapers(keywords) { var resultsContainer = document.getElementById('keyword-papers'); resultsContainer.innerHTML = ''; if (!keywords || keywords.length === 0) { resultsContainer.innerHTML = '<p>No data found.</p>'; return; } var keywordHTML = ''; keywords.forEach((key, index) => { let key_replace = key.replace(/ /g, '-'); key_replace = key_replace.toLowerCase(); keywordHTML += `<a href="https://epidemiology.blog/recent-publications/index/${key_replace}" target="_blank" title="${key} - publication list">${key}</a>`; if (index < keywords.length - 1) { keywordHTML += ', '; } }); resultsContainer.innerHTML = keywordHTML; } // Call the function with the PHP data var recent_papers = [ { "title": "Allele-specific PCR with fluorescently labeled probes: criteria for selecting primers for genotyping.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38946890", "publishedDate": "2024" }, { "title": "Inflammatory myofibroblastic tumor from molecular diagnostics to current treatment.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38948020", "publishedDate": "2024" }, { "title": "Necroptosis and immune infiltration in hypertrophic cardiomyopathy: novel insights from bioinformatics analyses.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38947229", "publishedDate": "2024" }, { "title": "Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38947032", "publishedDate": "2024" }, { "title": "Inferior Laryngeal Nerve Paraganglioma With Norepinephrine Hypersecretion Diagnosed Shortly After Pregnancy.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38947415", "publishedDate": "2024" }, { "title": "Circulating cell-free (cf)DNA analysis: Current technologies and applications in gynecologic cancer.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38947418", "publishedDate": "2024" }, { "title": "Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38951757", "publishedDate": "2024" }, { "title": "Surgical Management and Long-Term Evaluation of Pancreatic Neuroendocrine Tumors.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38944507", "publishedDate": "2024" }, { "title": "Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38943319", "publishedDate": "2024" }, { "title": "[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38948286", "publishedDate": "2024" }, { "title": "[Sperm Mosaic Variants and Their Influence on the Offspring].", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38948294", "publishedDate": "2024" }, { "title": "Enzyme-powered, label-free DNA walker for Uracil-DNA glycosylase detection at single-cell level.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38949517", "publishedDate": "2024" }, { "title": "An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38847936", "publishedDate": "2024" }, { "title": "Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38849481", "publishedDate": "2024" }, { "title": "Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38871447", "publishedDate": "2024" }, { "title": "Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38879467", "publishedDate": "2024" }, { "title": "Anthropometric traits and risk of multiple myeloma: differences by race, sex and diagnostic clinical features.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38849476", "publishedDate": "2024" }, { "title": "The metabolome-wide signature of major depressive disorder.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38849517", "publishedDate": "2024" }, { "title": "Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38844942", "publishedDate": "2024" }, { "title": "Diagnosis and treatment of Parkinson\u00b4s disease (guideline of the German Society for Neurology).", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38845028", "publishedDate": "2024" } ]; var keywordsArray = ["hereditary paragangliomas","SDH mutations","genetic testing","tumorigenesis","HIF pathway","pseudo-hypoxia","renal cell carcinoma","genetic counseling"]; displayResults_recent(recent_papers); displayKeywordPapers(keywordsArray); // function stripslashes(str) { // if (typeof str === 'string') { // return str.replace(/\/g, ''); // } // } </script></p> <h4><b>Implications for Genetic Counseling</b></h4> <p><span style="font-weight: 400;">Since most cases of paragangliomas are genetic, genetic counselling is an essential part of the medical management of such families. Based on clinical data, people who have genetic changes in SDH genes may also need to see a doctor to talk about their risk of getting tumors and how this might affect their family members. A genetic counselor can provide information about the possibility of surveillance for early disease detection, prevention, and family planning.</span></p> <p><span style="font-weight: 400;">When genetic counseling for hereditary paragangliomas, the fact that SDH mutations can show up in different ways is a problem. Not everyone with a mutation will get tumors, and the formation can take place at any time in a person’s lifetime. This is why it is crucial to refine risk assessments based on the type of mutation in the gene and the family history.</span></p> <p><span style="font-weight: 400;">Furthermore, the parent-of-origin effect detected in the SDHD mutation increases the complexity of the counseling. The family with an SDHD mutation should be informed about the increased risk of tumor formation, particularly if the mutation is paternal. This information can influence decisions regarding genetic testing and surveillance plans.</span></p> <h4><b>Future Directions for Research and Treatment</b></h4> <p><span style="font-weight: 400;">With the increase in the understanding of molecular genetics of hereditary paragangliomas, novel therapeutic options are being contemplated. Another potential line of treatment revolves around the HIF pathway, a key signaling pathway that is involved in the pseudo-hypoxic state that occurs due to SDH mutations. Small-molecule antagonists of HIF-1α and HIF-2α are being tested for SDH-related tumors in an attempt to block the ascertained dysregulated hypoxic signaling that promotes tumor development.</span></p> <p><span style="font-weight: 400;">Furthermore, there is evidence that immunotherapy is appropriate for paragangliomas treatment. Due to the high expression of oxidative stress and immune signaling, tumors linked with SDH mutations can be targeted using immune-based therapies. A few previous reports indicated that immune checkpoint inhibitors, which augment the body’s immune defense in tumor microenvironment, have potential benefits in the treatment of paragangliomas with malignant features.</span></p> <h4><b>Conclusion</b></h4> <p><span style="font-weight: 400;">Recent advancements in genetic analysis techniques and our understanding of the molecular pathogenesis of tumor development have significantly improved our ability to determine the genetic basis of hereditary paragangliomas. These advancements have enhanced the accuracy of diagnosis, facilitated early recognition of pathological processes, and improved treatment methods. Further research is expected to lead to even more effective therapies, which will ultimately improve outcomes for individuals affected by hereditary paragangliomas.</span></p> <p></p> <h4><b>References</b></h4> <ol> <li>Toro, J.R., Nickerson, M.L., Wei, M.H., Warren, M.B., Glenn, G.M., Turner, M.L., Stewart, L., Duray, P., Tourre, O., Sharma, N. and Choyke, P., 2003. <a href="https://www.cell.com/AJHG/fulltext/S0002-9297(07)63898-1">Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.</a> <i>The American Journal of Human Genetics</i>, <i>73</i>(1), pp.95-106.</li> <li>Alam, N.A., Rowan, A.J., Wortham, N.C., Pollard, P.J., Mitchell, M., Tyrer, J.P., Barclay, E., Calonje, E., Manek, S., Adams, S.J. and Bowers, P.W., 2003. <a href="https://academic.oup.com/hmg/article-abstract/12/11/1241/555320">Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.</a> <i>Human molecular genetics</i>, <i>12</i>(11), pp.1241-1252.</li> <li>Pollard, P., Wortham, N. and Tomlinson, I., 2003. <a href="https://www.tandfonline.com/doi/abs/10.1080/07853890310018458">The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. </a><i>Annals of medicine</i>, <i>35</i>(8), pp.634-635.</li> <li>Baysal, B.E., 2002. <a href="https://jmg.bmj.com/content/39/9/617.short">Hereditary paraganglioma targets diverse paraganglia.</a> <i>Journal of medical genetics</i>, <i>39</i>(9), pp.617-622.</li> <li>Chang, W.K., Yang, K.D., Chuang, H., Jan, J.T. and Shaio, M.F., 2002. <a href="https://www.sciencedirect.com/science/article/pii/S1521661602952575">Glutamine protects activated human T cells from apoptosis by up-regulating glutathione and Bcl-2 levels.</a> <i>Clinical Immunology</i>, <i>104</i>(2), pp.151-160.</li> <li>Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E.M., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S. and Dalziel, K., 2001. <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(07)61234-8">Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42. 3-q43.</a> <i>The American Journal of Human Genetics</i>, <i>68</i>(5), pp.1264-1269.</li> <li>Ivan, M., Kondo, K., Yang, H., Kim, W., Valiando, J., Ohh, M., Salic, A., Asara, J.M., Lane, W.S. and Kaelin Jr, W.G., 2001. <a href="https://www.science.org/doi/abs/10.1126/science.1059817">HIFα targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing. </a><i>Science</i>, <i>292</i>(5516), pp.464-468.</li> </ol> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Top Experts on “<b style="color:#000;font-size:22px;">genetic diagnosis</b>“</h2> </div> </div><div class="author-main"><div id="results_author"></div><div style="text-align: center;"><a class="register-button" href="https://epidemiology.blog/expert-search" target="_blank" rel="noopener">Find experts on any field</a></div></div><div class="inside-article" style="background: none;border: none;box-shadow: none;margin-top: -70px;"> <style> .author-block { padding: 15px; 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