{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:09:54Z","timestamp":1767841794871,"version":"3.49.0"},"reference-count":40,"publisher":"The Endocrine Society","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,11,1]]},"DOI":"10.1210\/jc.2017-00562","type":"journal-article","created":{"date-parts":[[2017,7,28]],"date-time":"2017-07-28T18:56:45Z","timestamp":1501268205000},"page":"4013-4022","source":"Crossref","is-referenced-by-count":39,"title":["Clinical and Molecular Features of Renal and Pheochromocytoma\/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review"],"prefix":"10.1210","volume":"102","author":[{"given":"Ruth T","family":"Casey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Y","family":"Warren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Ezequiel","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin G","family":"Challis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor","family":"Rattenberry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Whitworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina A","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme R","family":"Clark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"West","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip S","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"France M","family":"Docquier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fay","family":"Rodger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicki","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen L","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne","family":"Wallis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Giger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxine","family":"Tran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Tomkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant D","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo-Mi","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma R","family":"Woodward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2017,7,28]]},"reference":[{"issue":"1","key":"key\n\t\t\t\t20171106135730_B1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1023\/A:1023265919884","article-title":"Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility?","volume":"2","year":"2003","journal-title":"Fam Cancer"},{"issue":"3","key":"key\n\t\t\t\t20171106135730_B2","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/0002-9343(53)90043-6","article-title":"Pheochromocytoma: its relation to the neurocutaneous syndromes","volume":"14","year":"1953","journal-title":"Am J Med"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B3","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1159\/000320892","article-title":"Genetics of familial renal cancers","volume":"118","year":"2011","journal-title":"Nephron Exp Nephrol"},{"issue":"12","key":"key\n\t\t\t\t20171106135730_B4","first-page":"802","article-title":"Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979","volume":"58","year":"1983","journal-title":"Mayo Clin Proc"},{"issue":"2","key":"key\n\t\t\t\t20171106135730_B5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nrendo.2014.188","article-title":"Paraganglioma and phaeochromocytoma: from genetics to personalized medicine","volume":"11","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B6","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s00428-015-1755-2","article-title":"Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association","volume":"466","year":"2015","journal-title":"Virchows Arch"},{"issue":"9","key":"key\n\t\t\t\t20171106135730_B7","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1056\/NEJMc1012357","article-title":"Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4","volume":"364","year":"2011","journal-title":"N Engl J Med"},{"issue":"2","key":"key\n\t\t\t\t20171106135730_B8","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1210\/jc.2015-2592","article-title":"Complex MAX rearrangement in a family with malignant pheochromocytoma, renal oncocytoma, and erythrocytosis","volume":"101","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"key\n\t\t\t\t20171106135730_B9","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1016\/j.humpath.2015.07.027","article-title":"Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma","volume":"46","year":"2015","journal-title":"Hum Pathol"},{"issue":"7","key":"key\n\t\t\t\t20171106135730_B10","doi-asserted-by":"crossref","first-page":"E1248","DOI":"10.1210\/jc.2013-1319","article-title":"A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"key\n\t\t\t\t20171106135730_B11","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/ejhg.2014.157","article-title":"A clinical and genetic analysis of multiple primary cancer referrals to genetics services","volume":"23","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"key\n\t\t\t\t20171106135730_B12","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1097\/PAT.0000000000000018","article-title":"Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma","volume":"45","year":"2013","journal-title":"Pathology"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B13","first-page":"1","article-title":"Non-pheochromocytoma (PCC)\/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis","volume":"170","year":"2013","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"key\n\t\t\t\t20171106135730_B14","doi-asserted-by":"crossref","first-page":"E2046","DOI":"10.1210\/jc.2014-1659","article-title":"Germline FH mutations presenting with pheochromocytoma","volume":"99","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"key\n\t\t\t\t20171106135730_B15","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1007\/s10897-016-0020-4","article-title":"Prevalence and characteristics of patients with suspected inherited renal cell cancer: application of the ACMG\/NSGC Genetic Referral Guidelines to patient cohorts","volume":"26","year":"2017","journal-title":"J Genet Couns"},{"issue":"17","key":"key\n\t\t\t\t20171106135730_B16","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/jnci\/djn254","article-title":"Germline SDHB mutations and familial renal cell carcinoma","volume":"100","year":"2008","journal-title":"J Natl Cancer Inst"},{"issue":"2","key":"key\n\t\t\t\t20171106135730_B17","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/humu.20385","article-title":"Genotype-phenotype correlations in von Hippel-Lindau disease","volume":"28","year":"2007","journal-title":"Hum Mutat"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B18","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ejhg.2010.175","article-title":"von Hippel-Lindau disease: a clinical and scientific review","volume":"19","year":"2011","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B19","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/humu.21136","article-title":"Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD","volume":"31","year":"2010","journal-title":"Hum Mutat"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B20","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1086\/381054","article-title":"Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma","volume":"74","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B21","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jmg.2005.036400","article-title":"Increased risk of cancer in patients with fumarate hydratase germline mutation","volume":"43","year":"2006","journal-title":"J Med Genet"},{"issue":"15","key":"key\n\t\t\t\t20171106135730_B22","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1093\/hmg\/ddq206","article-title":"SDHA is a tumor suppressor gene causing paraganglioma","volume":"19","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"39","key":"key\n\t\t\t\t20171106135730_B23","first-page":"1809","article-title":"Multiple bilateral angiomyolipomas of the kidneys in tuberous brain sclerosis in association with pleomorphous pheochromocytoma","volume":"100","year":"1982","journal-title":"Fortschr Med"},{"issue":"7","key":"key\n\t\t\t\t20171106135730_B24","article-title":"Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis","volume":"22","year":"2016","journal-title":"Dermatol Online J"},{"issue":"10","key":"key\n\t\t\t\t20171106135730_B25","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1158\/1078-0432.CCR-12-0160","article-title":"MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma","volume":"18","year":"2012","journal-title":"Clin Cancer Res"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B26","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1086\/321282","article-title":"Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma","volume":"69","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"9","key":"key\n\t\t\t\t20171106135730_B27","doi-asserted-by":"crossref","first-page":"2428","DOI":"10.1093\/hmg\/ddt638","article-title":"The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function","volume":"23","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"9","key":"key\n\t\t\t\t20171106135730_B28","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1093\/jnci\/djs188","article-title":"Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography","volume":"104","year":"2012","journal-title":"J Natl Cancer Inst"},{"issue":"9-10","key":"key\n\t\t\t\t20171106135730_B29","doi-asserted-by":"crossref","first-page":"319","DOI":"10.5489\/cuaj.1496","article-title":"Canadian guideline on genetic screening for hereditary renal cell cancers","volume":"7","author":"Kidney Cancer Research Network of Canada","year":"2013","journal-title":"Can Urol Assoc J"},{"issue":"2","key":"key\n\t\t\t\t20171106135730_B30","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1530\/EJE-11-0497","article-title":"The genetics of phaeochromocytoma: using clinical features to guide genetic testing","volume":"166","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B31","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/modpathol.2014.86","article-title":"Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma","volume":"28","year":"2015","journal-title":"Mod Pathol"},{"issue":"1","key":"key\n\t\t\t\t20171106135730_B32","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.eururo.2016.02.029","article-title":"The 2016 WHO classification of tumours of the urinary system and male genital organs-part a: renal, penile, and testicular tumours","volume":"70","year":"2016","journal-title":"Eur Urol"},{"key":"key\n\t\t\t\t20171106135730_B33","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1097\/PAS.0000000000000292","article-title":"Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients","volume":"38","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B34","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/modpathol.2015.41","article-title":"SDHB\/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)","volume":"28","year":"2015","journal-title":"Mod Pathol"},{"issue":"5","key":"key\n\t\t\t\t20171106135730_B35","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1002\/(SICI)1097-0142(19970901)80:5<987::AID-CNCR24>3.0.CO;2-R","article-title":"Classification of renal cell carcinoma: Workgroup No. 1","volume":"80","author":"Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC)","year":"1997","journal-title":"Cancer"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B36","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.ccr.2013.04.018","article-title":"SDH mutations establish a hypermethylator phenotype in paraganglioma","volume":"23","year":"2013","journal-title":"Cancer Cell"},{"issue":"29","key":"key\n\t\t\t\t20171106135730_B37","doi-asserted-by":"crossref","first-page":"11988","DOI":"10.1073\/pnas.1310230110","article-title":"Myc and mTOR converge on a common node in protein synthesis control that confers synthetic lethality in Myc-driven cancers","volume":"110","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"key\n\t\t\t\t20171106135730_B38","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-16-0033","article-title":"European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma","volume":"174","author":"Guideline Working Group","year":"2016","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"key\n\t\t\t\t20171106135730_B39","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1016\/j.juro.2012.08.030","article-title":"Succinate dehydrogenase kidney cancer (SDH-RCC): an aggressive example of the Warburg effect in cancer","volume":"188","year":"2012","journal-title":"J Urol"},{"issue":"3","key":"key\n\t\t\t\t20171106135730_B40","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1530\/ERC-11-0324","article-title":"Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3","volume":"19","year":"2012","journal-title":"Endocr Relat Cancer"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/102\/11\/4013\/21533456\/jc.2017-00562.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T19:41:59Z","timestamp":1569958919000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/jcem\/article\/102\/11\/4013\/4049503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,28]]},"references-count":40,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2017,7,28]]},"published-print":{"date-parts":[[2017,11,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2017-00562","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,11,1]]},"published":{"date-parts":[[2017,7,28]]}}}