{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:36:46Z","timestamp":1782362206223,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World j. surg."],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours, often associated with germline mutations that influence the disease biology and clinical course. We aimed to describe the genotypic and phenotypic characteristics of a consecutive series of PPGL patients and correlate mutation status with clinical outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective cohort study of all PPGL patients who presented to a tertiary referral centre between March 2005 and February 2022. Genotypic, phenotypic and follow\u2010up data were analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 140 patients were included. Of these, 94 (67%) patients underwent genetic testing and a mutation was detected in 36 (38%) patients. Mutation presence was associated with younger age, smaller tumour size and bilateral adrenal tumours. Disease recurrence occurred at a median time of 5.4 (IQR 2.8\u201311.0) years after treatment in 21 (15%) patients, of which 14 (67%) had a mutation in a susceptibility gene. Recurrence pattern was influenced by mutation type; higher local recurrence risk for <jats:italic>SDHA<\/jats:italic>, <jats:italic>SDHB,<\/jats:italic> and MEN2B disease, and higher metastatic risk for <jats:italic>SDHB<\/jats:italic>, <jats:italic>VHL<\/jats:italic> and MEN2A disease. Recurrence occurred in three (3%) patients with mutation absence. Multivariate analysis revealed that age\u2009 \u226440 years and mutation presence were associated with increased risk of disease recurrence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Genotypic characteristics strongly influence disease presentation and recurrence risk, which may occur more than 5 years after initial treatment. Routine genetic testing of PPGL patients is warranted given the high prevalence of mutations, allowing for prognostication and tailored follow\u2010up. In the presence of germline mutations, follow\u2010up should be life\u2010long.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s00268-022-06862-w","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T20:05:27Z","timestamp":1671739527000},"page":"690-698","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotype\u2013Phenotype Correlations and Clinical Outcomes in 155 Cases of Pheochromocytoma and Paraganglioma"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0494-4768","authenticated-orcid":false,"given":"Hogan","family":"Wang","sequence":"first","affiliation":[{"name":"Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J.","family":"Papachristos","sequence":"additional","affiliation":[{"name":"Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW Australia"},{"name":"Endocrine Surgical Unit Royal North Shore Hospital Northern Sydney Local Health District Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Gill","sequence":"additional","affiliation":[{"name":"Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW Australia"},{"name":"NSW Health Pathology, Department of Anatomical Pathology Royal North Shore Hospital Northern Sydney Local Health District Sydney NSW Australia"},{"name":"Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW 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Royal North Shore Hospital Northern Sydney Local Health District Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Sywak","sequence":"additional","affiliation":[{"name":"Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW Australia"},{"name":"Endocrine Surgical Unit Royal North Shore Hospital Northern Sydney Local Health District Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stan B.","family":"Sidhu","sequence":"additional","affiliation":[{"name":"Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Sydney NSW Australia"},{"name":"Endocrine Surgical Unit Royal North Shore Hospital Northern Sydney Local Health District Sydney NSW 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December 2022","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 December 2022","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}