{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T16:00:26Z","timestamp":1708617626184},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,3,20]],"date-time":"2014-03-20T00:00:00Z","timestamp":1395273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Head &amp; Neck"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary paraganglioma\u2010pheochromocytoma syndromes (PGL\/PCC) are rare tumors arising from neuroendocrine cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>The proband, a 59\u2010year\u2010old white man and his 42\u2010year\u2010old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36\u2010year\u2010old daughter had excision of recurrent malignant carotid body PGL and vertebral metastasis. His 33\u2010year\u2010old youngest son presented for excision of a unilateral carotid body PGL. All 4 members had succinate dehydrogenase subunit D (<jats:italic>SDHD<\/jats:italic>) mutations, whereas the proband and youngest son also had concurrent rearranged during transfection (<jats:italic>RET<\/jats:italic>) mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of PGL\/PCC with <jats:italic>SDHD<\/jats:italic> and <jats:italic>RET<\/jats:italic> mutations. The role of the <jats:italic>RET<\/jats:italic> gene as a modifier remains speculative. Additionally, the family pedigree suggests maternal inheritance of disease from the probands' paternal grandmother. Clinicians should refer PGL\/PCC families for mutation analysis as well as being alert to changes in the classification of mutations. \u00a9 2014 Wiley Periodicals, Inc. <jats:italic>Head Neck<\/jats:italic>, 36: E99\u2013E102, 2014<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.23598","type":"journal-article","created":{"date-parts":[[2013,12,24]],"date-time":"2013-12-24T16:18:39Z","timestamp":1387901919000},"source":"Crossref","is-referenced-by-count":2,"title":["Hereditary paraganglioma\u2010pheochromocytoma syndromes associated with SDHD and RET mutations"],"prefix":"10.1002","volume":"36","author":[{"given":"Joseph Do Woong","family":"Choi","sequence":"first","affiliation":[{"name":"Academic Unit of Surgery Australian National University Medical School The Canberra Hospital Canberra Australian Capital Territory Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine M.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Service Prince of Wales Hospital Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tack Tsiew","family":"Lee","sequence":"additional","affiliation":[{"name":"Academic Unit of Surgery Australian National University Medical School The Canberra Hospital Canberra Australian Capital Territory Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan C.","family":"Chong","sequence":"additional","affiliation":[{"name":"Academic Unit of Surgery Australian National University Medical School The Canberra Hospital Canberra Australian Capital Territory Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,20]]},"reference":[{"key":"e_1_2_5_2_1","volume-title":"Gene reviews [Internet]","author":"Kirmani S","year":"2012"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-6-158"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1897-4287-10-12"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197503)35:3<695::AID-CNCR2820350323>3.0.CO;2-W"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anorl.2012.04.007"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101192"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.05.001"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.4158\/EP12012.CR"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12071"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1728"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2008.0403"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318216cc6d"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20880"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1989"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.surg.2007.11.012"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.14712\/23362936.2015.9"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1758-3284-2-23"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1308992"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-197405000-00029"}],"container-title":["Head &amp; Neck"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhed.23598","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hed.23598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T13:38:35Z","timestamp":1696340315000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hed.23598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,20]]},"references-count":19,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/hed.23598"],"URL":"https:\/\/doi.org\/10.1002\/hed.23598","archive":["Portico"],"relation":{},"ISSN":["1043-3074","1097-0347"],"issn-type":[{"value":"1043-3074","type":"print"},{"value":"1097-0347","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,20]]}}}