{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:02:41Z","timestamp":1740164561131,"version":"3.37.3"},"reference-count":28,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004332","name":"Seoul National University Hospital","doi-asserted-by":"publisher","award":["04-2017-3050"],"award-info":[{"award-number":["04-2017-3050"]}],"id":[{"id":"10.13039\/501100004332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel<jats:italic> RET<\/jats:italic> germline mutation (exon 15; c.2692G&gt;T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas. The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass. She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma. Mutation screening detected a<jats:italic> RET<\/jats:italic> p.D898Y mutation, both in the patient and in the patient\u2019s two sons and older sister. This is the first description of a<jats:italic> RET<\/jats:italic> D898Y mutation in a pheochromocytoma patient and her family. The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family. Long term follow-up will be required to determine the clinical significance of the<jats:italic> RET<\/jats:italic> D898Y mutation.<\/jats:p>","DOI":"10.1155\/2018\/8657914","type":"journal-article","created":{"date-parts":[[2018,4,15]],"date-time":"2018-04-15T19:32:14Z","timestamp":1523820734000},"page":"1-6","source":"Crossref","is-referenced-by-count":1,"title":["A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9296-8443","authenticated-orcid":true,"given":"Jin Wook","family":"Yi","sequence":"first","affiliation":[{"name":"Department of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"},{"name":"Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye In","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5511-3596","authenticated-orcid":true,"given":"Su-jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"},{"name":"Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chan Yong","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Jun","family":"Chai","sequence":"additional","affiliation":[{"name":"Department of Surgery, Seoul National University Boramae Medical Center, 20 Boramae-ro 5-gil, Dongjak-gu, Seoul 156-70, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9990-607X","authenticated-orcid":true,"given":"June Young","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of 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