{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:21:10Z","timestamp":1784557270129,"version":"3.55.0"},"reference-count":57,"publisher":"Bioscientifica","issue":"8","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,5,20]]},"abstract":"<jats:p>\n                    In 2012, somatic\n                    <jats:italic>EPAS1<\/jats:italic>\n                    pathogenic variants were found to cause a triad of pheochromocytoma\/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been reported, and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed\n                    <jats:italic>EPAS1<\/jats:italic>\n                    -related PPGL and describe an unusual patient who has been living with an\n                    <jats:italic>EPAS1<\/jats:italic>\n                    -related metastatic PPGL for 47 years. The results of this work show that\n                    <jats:italic>EPAS1<\/jats:italic>\n                    pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes. PPGLs are the most common manifestation followed by polycythemia and somatostatinoma. The\n                    <jats:italic>EPAS1<\/jats:italic>\n                    pathogenic variants are often postzygotic, and the timing of their acquirement during embryonic development seems to correlate with the number and timing of development of the disease manifestations. Although recurrent and multifocal disease is common in\n                    <jats:italic>EPAS1<\/jats:italic>\n                    -related PPGL, distant metastases are uncommon and usually indolent. This is illustrated by a case of a man who was diagnosed at the age of 9 years and is currently 56 years old, alive, and well for 47 years with these metastases. He was found to have a somatic\n                    <jats:italic>EPAS1<\/jats:italic>\n                    pathogenic variant (c.1592C&gt;A, p.Pro531His) in bilateral pheochomocytoma and a pancreatic NET (somatostatinoma) but not in genomic DNA isolated from peripheral leukocytes. This and previous reports suggest that distant metastases are uncommon and less aggressive in\n                    <jats:italic>EPAS1<\/jats:italic>\n                    -related PPGLs compared to those found in other hereditary PPGLs.\n                  <\/jats:p>","DOI":"10.1530\/erc-23-0303","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T08:37:12Z","timestamp":1716194232000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":5,"title":["EPAS1-related pheochromocytoma\/paraganglioma"],"prefix":"10.1530","volume":"31","author":[{"given":"Ali S","family":"Alzahrani","sequence":"first","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"},{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meshael","family":"Alswailem","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Buffet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellis\u00e9e Ligue contre le Cancer, Paris, France"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9nomique des Tumeurs et des Cancers, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, Assistance Publique-H\u00f4pitaux de Paris (AP-HP) Centre, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balgees","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lulu","family":"Alobaid","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamah","family":"Alsagheir","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hindi","family":"Al-Hindi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karel","family":"Pacak","sequence":"additional","affiliation":[{"name":"Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Oncotarget","first-page":"5919","article-title":"Mutational profile and genotype\/phenotype correlation of non-familial pheochromocytoma and paraganglioma","volume":"10","author":"Albattal","year":"2019","unstructured":"Albattal SAlswailem MMoria YAl-Hindi HDasouki MAbouelhoda MAlkhail HAAlsuhaibani E & Alzahrani AS2019Mutational profile and genotype\/phenotype correlation of non-familial pheochromocytoma and paraganglioma. 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(https:\/\/doi.org\/10.1530\/ERC-20-0280)"},{"key":"bib13","series-title":"Journal of the American College of Surgeons","first-page":"489","article-title":"Response after surgical resection of metastatic pheochromocytoma and paraganglioma: can postoperative biochemical remission be predicted?","volume":"217","author":"Ellis","year":"2013","unstructured":"Ellis RJPatel DProdanov TSadowski SNilubol NAdams KSteinberg SMPacak K & Kebebew E2013Response after surgical resection of metastatic pheochromocytoma and paraganglioma: can postoperative biochemical remission be predicted?Journal of the American College of Surgeons217489\u2013496. 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