{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T16:25:49Z","timestamp":1771863949811,"version":"3.50.1"},"reference-count":30,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82170806"],"award-info":[{"award-number":["82170806"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81570711"],"award-info":[{"award-number":["81570711"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012486","name":"Innovation-Driven Project of Central South University","doi-asserted-by":"crossref","award":["020CX046"],"award-info":[{"award-number":["020CX046"]}],"id":[{"id":"10.13039\/501100012486","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Tutorial System training project for youth key talents in Suzhou Health System","award":["Qngg2021007"],"award-info":[{"award-number":["Qngg2021007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,13]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>IDH1 is a pheochromocytoma\/paraganglioma (PPGL) susceptibility gene; however, its role, especially in the Chinese population, has not been characterized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the prevalence of somatic IDH1 hotspot variants in a large cohort of Chinese patients with PPGLs and to summarize associated phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective cross-sectional study was based on a main cohort of 1141 patients with PPGLs from 2 tertiary-care centers in China. We included 50 cases with urinary bladder paragangliomas (UBPGLs), of whom 29 were part of the main cohort and 21 were from other centers. Two additional cases with IDH1 hotspot variants not part of the main cohort were also included for summarizing IDH1-associated phenotypes. Next-generation sequencing of tumor DNA was used to analyze a customized panel of genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The overall prevalence of IDH1 hotspot variants in the main cohort was 0.5% (6\/1141). Among those PPGLs without mutations in 15 common driver genes, the prevalence of IDH1 variants was 0.9% (4\/455). When restricted to paraganglioma (PGL) without mutations, the prevalence reached 4.7% (4\/86). Among UBPGLs, IDH1 hotspot variants accounted for 8% (4\/50). Together, all 10 patients (9 PGLs and 1 pheochromocytoma) with IDH1 hotspot variants, including 3 females with concurrent EPAS1 hotspot variants, had apparently sporadic tumors, without metastasis or recurrence. There were 3 patients with biochemical data, all showing a non-adrenergic phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The somatic IDH1 hotspot variants cause PPGL development in some Chinese patients, especially among those apparently sporadic PGLs with a non-adrenergic phenotype and without mutations in major PPGL driver genes.<\/jats:p><\/jats:sec>","DOI":"10.1210\/clinem\/dgac653","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T17:31:13Z","timestamp":1668101473000},"page":"1215-1223","source":"Crossref","is-referenced-by-count":7,"title":["Somatic<i>IDH1<\/i>Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-0471","authenticated-orcid":false,"given":"Minghao","family":"Li","sequence":"first","affiliation":[{"name":"Department of Urology, Xiangya Hospital, Central South University , Changsha, 410008 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yazhi","family":"He","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University , Shenyang, 110001 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingxian","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Urology, Xiangya Hospital, Central South University , Changsha, 410008 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1958-8169","authenticated-orcid":false,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Zhongshan Hospital , Shanghai, 200032 , China"},{"name":"Fudan Institute for Metabolic Diseases, Fudan University , Shanghai, 200032 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Second Affiliated Hospital of Soochow University , Suzhou, 215004 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"He","sequence":"additional","affiliation":[{"name":"Department of Urology, Xiangya Hospital, Central South University , Changsha, 410008 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Urology, Xiangya Hospital, Central South University , Changsha, 410008 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongbao","family":"Wei","sequence":"additional","affiliation":[{"name":"Shengli Clinical Medical College of Fujian Medical University and Department of Urology, Fujian Provincial Hospital , Fuzhou, 350001 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dewen","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Urology, Longyan First Affiliated Hospital of Fujian Medical University , Longyan, 364000 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanglong","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Urology, The First People's Hospital of Chenzhou , Chenzhou, 423000 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Urology, The Third Xiangya Hospital, Central South University , Changsha, 410013 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Urology, The Second Xiangya Hospital, Central South University , Changsha, 410011 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yazhuo","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Urology, Shaanxi Provincial People's Hospital , Xi\u2019an, 710068 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Urology, The First Affiliated Hospital of Fujian Medical University , Fuzhou, 361003 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Urology, The First Affiliated Hospital of Fujian Medical University , Fuzhou, 361003 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanlin","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Urology, Nanchong Central Hospital, The Second Clinical Hospital of North Sichuan Medical College , Szechwan, 637000 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinzhuo","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Urology, Renmin Hospital of Wuhan University , Wuhan, 430060 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Urology, Zhongshan Hospital, Fudan University , Shanghai, 200032 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Zhongshan Hospital , Shanghai, 200032 , China"},{"name":"Fudan Institute for Metabolic Diseases, Fudan University , Shanghai, 200032 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongyan","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University , Shenyang, 110001 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0274-4057","authenticated-orcid":false,"given":"Longfei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Urology, Xiangya Hospital, Central South University , Changsha, 410008 , China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, 410008 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1329-8486","authenticated-orcid":false,"given":"Xiaochun","family":"Teng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University , Shenyang, 110001 , 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