{"id":787,"date":"2015-08-12T18:13:33","date_gmt":"2015-08-12T18:13:33","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=787"},"modified":"2026-02-25T00:42:14","modified_gmt":"2026-02-25T00:42:14","slug":"recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/12\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\/","title":{"rendered":"Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Curr\u00e1s-Freixes)"},"content":{"rendered":"<p>Up to 70% of patients with pheochromocytoma or paraganglioma (PPGL) harbor a somatic or germline mutation in one of the 22 genes described so far as related to the disease. However, patients with apparently sporadic PPGL tend to be excluded from genetic testing. This study should bring to an end years of controversy and debate, as it brings new evidence that highlights the need to recommend genetic testing for all patients with an apparently sporadic PPGL, regardless of the age of first PPGL diagnosis or the metastatic behavior. Of note, the study remarks benefits of identifying a somatic mutation for the patient and relatives. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/08\/12\/jmedgenet-2015-103218\">http:\/\/jmg.bmj.com\/content\/early\/2015\/08\/12\/jmedgenet-2015-103218<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Up to 70% of patients with pheochromocytoma or paraganglioma (PPGL) harbor a somatic or germline mutation in one of the 22 genes described so far as related to the disease. However, patients with apparently sporadic PPGL tend to be excluded from genetic testing. This study should bring to an end years of controversy and debate, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/12\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-787","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Curr\u00e1s-Freixes) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/12\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Curr\u00e1s-Freixes) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Up to 70% of patients with pheochromocytoma or paraganglioma (PPGL) harbor a somatic or germline mutation in one of the 22 genes described so far as related to the disease. However, patients with apparently sporadic PPGL tend to be excluded from genetic testing. This study should bring to an end years of controversy and debate, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/12\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-08-12T18:13:33+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:42:14+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Curr\u00e1s-Freixes)\",\"datePublished\":\"2015-08-12T18:13:33+00:00\",\"dateModified\":\"2026-02-25T00:42:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/12\\\/recommendations-for-somatic-and-germline-genetic-testing-of-single-pheochromocytoma-and-paraganglioma-based-on-findings-from-a-series-of-329-patients\\\/\",\"name\":\"Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Curr\u00e1s-Freixes) - 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