{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T01:55:32Z","timestamp":1793498132391,"version":"4.5.0"},"reference-count":64,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T00:00:00Z","timestamp":1686096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"The Friends of Guy's and St Thomas"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Somatic EPAS1 variants account for 5% to 8% of all pheochromocytoma and paragangliomas (PPGL) but are detected in over 90% of PPGL in patients with congenital cyanotic heart disease, where hypoxemia may select for EPAS1 gain-of-function variants. Sickle cell disease (SCD) is an inherited hemoglobinopathy associated with chronic hypoxia and there are isolated reports of PPGL in patients with SCD, but a genetic link between the conditions has yet to be established.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine the phenotype and EPAS1 variant status of patients with PPGL and SCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Records of 128 patients with PPGL under follow-up at our center from January 2017 to December 2022 were screened for SCD diagnosis. For identified patients, clinical data and biological specimens were obtained, including tumor, adjacent non-tumor tissue and peripheral blood. Sanger sequencing of exons 9 and 12 of EPAS1, followed by amplicon next-generation sequencing of identified variants was performed on all samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Four patients with both PPGL and SCD were identified. Median age at PPGL diagnosis was 28 years. Three tumors were abdominal paragangliomas and 1 was a pheochromocytoma. No germline pathogenic variants in PPGL-susceptibility genes were identified in the cohort. Genetic testing of tumor tissue detected unique EPAS1 variants in all 4 patients. Variants were not detected in the germline, and 1 variant was detected in lymph node tissue of a patient with metastatic disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We propose that somatic EPAS1 variants may be acquired through exposure to chronic hypoxia in SCD and drive PPGL development. Future work is needed to further characterize this association.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgad311","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T07:53:23Z","timestamp":1686124403000},"page":"3302-3310","source":"Crossref","is-referenced-by-count":12,"title":["Somatic\n                    <i>EPAS1<\/i>\n                    Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7340-5517","authenticated-orcid":false,"given":"Gemma","family":"White","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics, King's College London , London, SE1 9RT , UK"},{"name":"Department of Clinical Genetics, Guy's and St Thomas\u2019 NHS Foundation Trust , London, SE1 9RT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Nonaka","sequence":"additional","affiliation":[{"name":"Department of Pathology, Guy's and St Thomas\u2019 NHS Foundation Trust , London, SE1 7EH , UK"},{"name":"Department of Cellular Pathology, King's College London , London, SE1 1UL , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1081-6540","authenticated-orcid":false,"given":"Teng-Teng","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University College London Hospital NHS Foundation Trust , London, NW1 2BU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2706-8139","authenticated-orcid":false,"given":"Rebecca J","family":"Oakey","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, King's College London , London, SE1 9RT , 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