{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:22:53Z","timestamp":1792174973255,"version":"4.4.0"},"reference-count":31,"publisher":"The Endocrine Society","issue":"4","funder":[{"name":"Group of Endocrine Tumors"},{"DOI":"10.13039\/501100002915","name":"la Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"crossref","award":["FDT20170436955"],"award-info":[{"award-number":["FDT20170436955"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Our objective was to evaluate how a positive genetic test impacts the management and outcome of patients with SDHx or VHL-related PPGL.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>We performed a multicentric retrospective study involving 221 propositi carrying an SDHB, SDHD, SDHC, or VHL germline mutation. Patients were divided into two groups: genetic patients, who were informed of their genetic status within the year following the first PPGL diagnosis, and historic patients, who only benefited from the genetic test several years after initial PPGL diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Genetic patients had better follow-up than historic patients, with a greater number of examinations and a reduced number of patients lost to follow-up (9.6% vs 72%, respectively). During follow-up, smaller (18.7 vs 27.6 mm; P = 0.0128) new PPGLs and metastases as well as lower metastatic spread were observed in genetic patients. Of note, these differences were reversed in the historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival rate than historic patients (P = 0.0127).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Altogether, our data suggest that early knowledge of genetic status had a positive impact on the management and clinical outcome of patients with a germline SDHx or VHL mutation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2018-02411","type":"journal-article","created":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T10:38:21Z","timestamp":1548844701000},"page":"1109-1118","source":"Crossref","is-referenced-by-count":118,"title":["Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and\/or Pheochromocytoma"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4742-2708","authenticated-orcid":false,"given":"Alexandre","family":"Buffet","sequence":"first","affiliation":[{"name":"\u00c9quipe Labellis\u00e9e par la Ligue Contre le Cancer, INSERM, UMR970, Paris-Centre de Recherche Cardiovasculaire, Paris, France"},{"name":"Service d'Endocrinologie, H\u00f4pital Larrey, CHU de Toulouse, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laur\u00e8ne","family":"Ben Aim","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Service de G\u00e9n\u00e9tique, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Leboulleux","sequence":"additional","affiliation":[{"name":"Gustave Roussy, Universit\u00e9 Paris-Saclay, Service de M\u00e9decine Nucl\u00e9aire et Canc\u00e9rologie Endocrinienne, Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Drui","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie, Diab\u00e9tologie et Maladies M\u00e9taboliques, L\u2019institut du Thorax, Centre Hospitalier Universitaire de Nantes, H\u00f4pital Nord La\u00ebnnec, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Vezzosi","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie, H\u00f4pital Larrey, CHU de Toulouse, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Lib\u00e9","sequence":"additional","affiliation":[{"name":"Assistance Publique, H\u00f4pitaux de Paris, H\u00f4pital Cochin, Service d\u2019Endocrinologie, Centre de R\u00e9f\u00e9rence Maladies Rares de la Surr\u00e9nale, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Ajzenberg","sequence":"additional","affiliation":[{"name":"Assistance Publique, H\u00f4pitaux de Paris, Service de M\u00e9decine Interne et Endocrinologie, H\u00f4pital Henri Mondor, Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Bernardeschi","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Universitaire Piti\u00e9-Salp\u00eatri\u00e8re, Service d\u2019ORL, Unit\u00e9 d'Otologie, Implantologie Auditive et Chirurgie de la Base du Cr\u00e2ne, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Cariou","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie, Diab\u00e9tologie et Maladies M\u00e9taboliques, L\u2019institut du Thorax, Centre Hospitalier Universitaire de Nantes, H\u00f4pital Nord La\u00ebnnec, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Chabolle","sequence":"additional","affiliation":[{"name":"Service d\u2019ORL et de Chirurgie Cervico-Faciale, H\u00f4pital Foch, Suresnes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Chabre","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie, CHU de Grenoble-Alpes, La Tronche, Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Darrouzet","sequence":"additional","affiliation":[{"name":"Service d\u2019ORL et de Chirurgie Cervico-Faciale, H\u00f4pital Pellegrin, CHU de Bordeaux, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Delemer","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, H\u00f4pital Robert Debr\u00e9, CHU de Reims, Reims, 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Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Tabarin","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, H\u00f4pital Haut-L\u00e9v\u00eaque, CHU de Bordeaux, Pessac, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Tauveron","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, H\u00f4pital Gabriel Montpied, CHU de Clermont-Ferrand, Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Zenaty","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Universitaire Robert Debr\u00e9, Service d\u2019Endocrinologie Diab\u00e9tologie P\u00e9diatrique, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, Paris, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Amar","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes, PRES Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, Paris, France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Service d\u2019Hypertension Art\u00e9rielle et M\u00e9decine Vasculaire, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-670X","authenticated-orcid":false,"given":"Anne-Paule","family":"Gimenez-Roqueplo","sequence":"additional","affiliation":[{"name":"\u00c9quipe Labellis\u00e9e par la Ligue Contre le Cancer, INSERM, UMR970, Paris-Centre de Recherche Cardiovasculaire, Paris, France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Service de G\u00e9n\u00e9tique, Paris, France"},{"name":"Universit\u00e9 Paris Descartes, PRES Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"French Group of Endocrine Tumors (GTE) and COMETE Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,1,29]]},"reference":[{"issue":"3","key":"2020071623502902900_B1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.0954-6820.1986.tb02755.x","article-title":"Pheochromocytoma in Sweden 1958-1981: An analysis of the National Cancer Registry data","volume":"220","author":"Stenstr\u00f6m","year":"1986","journal-title":"Acta Med Scand"},{"issue":"12","key":"2020071623502902900_B2","first-page":"802","article-title":"Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979","volume":"58","author":"Beard","year":"1983","journal-title":"Mayo Clin 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