{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:18:22Z","timestamp":1784557102915,"version":"3.55.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"2","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,6]]},"abstract":"\n Mutations in succinate dehydrogense-B (\n SDHB<\/jats:italic>\n ) and the von Hippel-Lindau (\n VHL<\/jats:italic>\n ) genes result in an increased risk of developing chromaffin tumours via a common aetiological pathway. The aim of the present retrospective study was to compare the clinical phenotypes of disease in subjects developing chromaffin tumours as a result of\n SDHB<\/jats:italic>\n mutations or\n VHL<\/jats:italic>\n disease. Thirty-one subjects with chromaffin tumours were assessed; 16 subjects had\n SDHB<\/jats:italic>\n gene mutations and 15 subjects had a diagnosis of\n VHL<\/jats:italic>\n .\n VHL<\/jats:italic>\n -related tumours were predominantly adrenal phaeochromocytomas (22\/26; 84.6%), while\n SDHB<\/jats:italic>\n -related tumours were predominantly extra-adrenal paragangliomas (19\/25; 76%). Median age at onset of the first chromaffin tumour was similar in the two cohorts. Tumour size was significantly larger in the\n SDHB<\/jats:italic>\n cohort in comparison with the\n VHL<\/jats:italic>\n cohort (\n P<\/jats:italic>\n =0.002). Multifocal disease was present in 9\/15 (60%) of the\n VHL<\/jats:italic>\n cohort (bilateral phaeochromocytomas) and only 3\/16 (19%) of the\n SDHB<\/jats:italic>\n cohort, while metastatic disease was found in 5\/16 (31%) of the\n SDHB<\/jats:italic>\n cohort but not in the\n VHL<\/jats:italic>\n cohort to date. The frequency of symptoms, hypertension and the magnitude of catecholamine secretion appeared to be greater in the\n SDHB<\/jats:italic>\n cohort. Renal cell carcinomas were a feature in 5\/15 (33%) of the\n VHL<\/jats:italic>\n cohort and 1\/16 (6%) of the\n SDHB<\/jats:italic>\n cohort. These data indicate that\n SDHB<\/jats:italic>\n -related tumours are predominantly extra-adrenal in location and associated with higher catecholamine secretion and more malignant disease, in subjects who appear more symptomatic.\n VHL<\/jats:italic>\n -related tumours tend to be adrenal phaeochromocytomas, frequently bilateral and associated with a milder phenotype.\n <\/jats:p>","DOI":"10.1677\/erc-08-0239","type":"journal-article","created":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T22:43:26Z","timestamp":1234305806000},"page":"515-525","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":29,"title":["Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours"],"prefix":"10.1530","volume":"16","author":[{"given":"Umasuthan","family":"Srirangalingam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Khoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H","family":"Skelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emad","family":"George","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Spooner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda B","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P","family":"Monson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley B","family":"Grossman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W M","family":"Drake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A","family":"Akker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J","family":"Pollard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Plowman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Avril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M","family":"Berney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacky M","family":"Burrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney H","family":"Reznek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V K Ajith","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shern L","family":"Chew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/16\/2\/515.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/16\/2\/515.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:52:20Z","timestamp":1784555540000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/16\/2\/515-525\/34601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1677\/erc-08-0239","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6]]}}}