{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T15:20:42Z","timestamp":1780500042739,"version":"3.54.1"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Objectives.<\/jats:bold>\n                    Pheochromocytoma (PCC) is a neuroendocrine tumor derived from chromaffin tissue more frequently found in the adrenal medulla. Many discoveries over the last decade have significantly improved our understanding of PCC.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods.<\/jats:bold>\n                    We retrospectively reviewed all patients with a histological diagnosis of PCC at the Centro Hospitalar Universitario de Sao Joao, a tertiary and university hospital in Oporto, Portugal, between January 2009 and December 2017.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results.<\/jats:bold>\n                    The study group included 33 patients. In most cases the diagnosis was suspected with more than half of patients presenting with hypertension and the third diagnosed during the work-up of an adrenal incidentaloma. About half of the patients was referred for genetic testing and 6 patients had a positive inherited susceptibility genetic pathogenic variant associated with classic cancer predisposition syndromes and also associated with newly described genes. In the incidentaloma group, genetic testing was performed in 3 (9%) patients with only 1 positive result. In the suspected group, 15 (45%) genetic tests were performed.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions.<\/jats:bold>\n                    In contrast to other studies, where only a minority of patients with PCC were referred for genetic counselling, in our study 54% of patients was referred for genetic testing. This study suggests that clinicians were correctly recognizing the need to refer young patients and patients with positive family history. However, opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PCC, particularly older than 30 years old. It is imperative that all the providers involved in the multidisciplinary care of patients with pheochromocytomas are aware of the genetic disorders associated with these unique tumors.\n                  <\/jats:p>","DOI":"10.2478\/enr-2021-0003","type":"journal-article","created":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T20:38:09Z","timestamp":1617741489000},"page":"16-21","source":"Crossref","is-referenced-by-count":7,"title":["Pheochromocytoma: a retrospective study from a single center"],"prefix":"10.2478","volume":"55","author":[{"given":"Neuza Alves","family":"Soares","sequence":"first","affiliation":[{"name":"Internal Medicine Department , Centro Hospitalar Universitario de Sao Joao , Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Teixeira Pinto Ferreira","family":"Pacheco","sequence":"additional","affiliation":[{"name":"Internal Medicine Department , Centro Hospitalar Universitario de Sao Joao , Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel Joao Rocha Ferreira Rodrigues","family":"de Sousa","sequence":"additional","affiliation":[{"name":"Surgeon MaxiloFacial Department , Centro Hospitalar Universitario de Sao Joao , Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Lopes","family":"Matos","sequence":"additional","affiliation":[{"name":"Internal Medicine Department , Centro Hospitalar Universitario de Sao Joao , Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana Alexandra Lourenco","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Internal Medicine Department , Centro Hospitalar Universitario de Sao Joao , Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"2026042723213413830_j_enr-2021-0003_ref_001","doi-asserted-by":"crossref","unstructured":"Alrezk R, Suarez A, Tena I, Pacak K. Update of pheochromocytoma syndromes: genetics, biochemical evaluation, and imaging. Front Endocrinol (Lausanne) 9, 515, 2018.10.3389\/fendo.2018.00515627748130538672","DOI":"10.3389\/fendo.2018.00515"},{"key":"2026042723213413830_j_enr-2021-0003_ref_002","doi-asserted-by":"crossref","unstructured":"Baguet JP, Hammer L, Mazzuco TL, Chabre O, Mallion JM, Sturm N, Chaffanjon P. Circumstances of discovery of phaeochromocytoma: a retrospective study of 41 consecutive patients. Eur J Endocrinol 150, 681\u2013686, 2004.10.1530\/eje.0.150068115132724","DOI":"10.1530\/eje.0.1500681"},{"key":"2026042723213413830_j_enr-2021-0003_ref_003","doi-asserted-by":"crossref","unstructured":"Bean L, Bayrak-Toydemir P. American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Genet Med 16, e2, 2014.10.1038\/gim.2014.14625356969","DOI":"10.1038\/gim.2014.146"},{"key":"2026042723213413830_j_enr-2021-0003_ref_004","doi-asserted-by":"crossref","unstructured":"Berends AMA, Buitenwerf E, de Krijger RR, Veeger NJGM, van der Horst-Schrivers ANA, Links TP, Kerstens MN. Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review. Eur J Intern Med 51, 68\u201373, 2018.10.1016\/j.ejim.2018.01.01529361475","DOI":"10.1016\/j.ejim.2018.01.015"},{"key":"2026042723213413830_j_enr-2021-0003_ref_005","doi-asserted-by":"crossref","unstructured":"Chew WHW, Courtney E, Lim KH, Li ST, Chen Y, Tan MH, Chung A, Khoo J, Loh A, Soh SY, Iyer P, Loh LM, Ngeow J. Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing. Mol Genet Genomic Med 5, 602\u2013607, 2017.10.1002\/mgg3.313560687928944243","DOI":"10.1002\/mgg3.313"},{"key":"2026042723213413830_j_enr-2021-0003_ref_006","doi-asserted-by":"crossref","unstructured":"Cornu E, Belmihoub I, Burnichon N, Grataloup C, Zinzindohoue F, Baron S, Billaud E, Azizi M, Gimenez-Roqueplo AP, Amar L. Pheochromocytome et paragangliome [Phaeochromocytoma and paraganglioma]. Rev Med Interne 40, 733\u2013741, 2019.10.1016\/j.revmed.2019.07.00831493938","DOI":"10.1016\/j.revmed.2019.07.008"},{"key":"2026042723213413830_j_enr-2021-0003_ref_007","doi-asserted-by":"crossref","unstructured":"Davison AS, Jones DM, Ruthven S, Helliwell T, Shore SL. Clinical evaluation and treatment of phaeochromocytoma. Ann Clin Biochem 55, 34\u201348, 2018.10.1177\/000456321773993129027806","DOI":"10.1177\/0004563217739931"},{"key":"2026042723213413830_j_enr-2021-0003_ref_008","doi-asserted-by":"crossref","unstructured":"Fishbein L. Pheochromocytoma\/paraganglioma: Is this a genetic disorder? Curr Cardiol Rep 21, 104, 2019.10.1007\/s11886-019-1184-y31367972","DOI":"10.1007\/s11886-019-1184-y"},{"key":"2026042723213413830_j_enr-2021-0003_ref_009","doi-asserted-by":"crossref","unstructured":"Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 99, 1915\u20131942, 2014.10.1210\/jc.2014-149824893135","DOI":"10.1210\/jc.2014-1498"},{"key":"2026042723213413830_j_enr-2021-0003_ref_010","doi-asserted-by":"crossref","unstructured":"Mannelli M. Biochemistry, genetics and therapy of malignant pheochromocytomas. Ann Endocrinol (Paris) 70, 166\u2013167, 2009.10.1016\/j.ando.2009.02.00919286155","DOI":"10.1016\/j.ando.2009.02.009"},{"key":"2026042723213413830_j_enr-2021-0003_ref_011","doi-asserted-by":"crossref","unstructured":"Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346, 1459\u20131466, 2002.10.1056\/NEJMoa02015212000816","DOI":"10.1056\/NEJMoa020152"},{"key":"2026042723213413830_j_enr-2021-0003_ref_012","doi-asserted-by":"crossref","unstructured":"Walther MM, Reiter R, Keiser HR, Choyke PL, Venzon D, Hurley K, Gnarra JR, Reynolds JC, Glenn GM, Zbar B, Linehan WM. Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 162, 659\u2013664, 1999.10.1097\/00005392-199909010-0000410458336","DOI":"10.1097\/00005392-199909010-00004"},{"key":"2026042723213413830_j_enr-2021-0003_ref_013","unstructured":"WHO Classification of Tumours of Endocrine Organs, WHO Classification of Tumours, 4th Edition, Volume 10 (Eds. Lloyd RV, Osamura RY, Kloppel G, Rosai J), 2017."}],"container-title":["Endocrine Regulations"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/enr-2021-0003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T07:48:23Z","timestamp":1777362503000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/enr-2021-0003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1,29]]},"published-print":{"date-parts":[[2021,1,1]]}},"alternative-id":["10.2478\/enr-2021-0003"],"URL":"https:\/\/doi.org\/10.2478\/enr-2021-0003","relation":{},"ISSN":["1336-0329"],"issn-type":[{"value":"1336-0329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,1]]}}}