{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T15:34:51Z","timestamp":1787585691163,"version":"build-2736575974"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"R2","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Over the past two decades advances in genomic technologies have transformed knowledge of the genetic basis of phaeochromocytoma and paraganglioma (PPGL). Though traditional teaching suggested that inherited cases accounted for only 10% of all phaeochromocytoma diagnosis, current estimates are at least three times this proportion. Inherited PPGL is a highly genetically heterogeneous disorder but the most frequently results from inactivating variants in genes encoding subunits of succinate dehydrogenase. Expanding knowledge of the genetics of PPGL has been translated into clinical practice by the provision of widespread testing for inherited PPGL. In this review, we explore how the molecular stratification of PPGL is being utilized to enable more personalized strategies for investigation, surveillance and management of affected individuals and their families. Translating recent genetic research advances into clinical service can not only bring benefits through more accurate diagnosis and risk prediction but also challenges when there is a suboptimal evidence base for the clinical consequences or significance of rare genotypes. In such cases, clinical, biochemical, pathological and functional imaging assessments can all contribute to more accurate interpretation and clinical management.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa201","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T11:14:10Z","timestamp":1602242050000},"page":"R128-R137","source":"Crossref","is-referenced-by-count":34,"title":["Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine"],"prefix":"10.1093","volume":"29","author":[{"given":"Ruth","family":"Casey","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK"},{"name":"Department of Endocrinology, Cambridge University Hospital Foundation Trust, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut P H","family":"Neumann","sequence":"additional","affiliation":[{"name":"Section for Preventive Medicine, Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6226-6918","authenticated-orcid":false,"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,10,20]]},"reference":[{"key":"2020102011350643600_ref1","volume-title":"WHO Classification of Tumours: Pathology and Genetics of Tumours of Endocrine Organs","author":"Lloyd","year":"2017","edition":"4th"},{"key":"2020102011350643600_ref2","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1056\/NEJMra1806651","article-title":"Pheochromocytoma and paraganglioma","volume":"381","author":"Neumann","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"2020102011350643600_ref3","doi-asserted-by":"crossref","first-page":"101416","DOI":"10.1016\/j.beem.2020.101416","article-title":"An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma","volume":"34","author":"Buffet","year":"2020","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"2020102011350643600_ref4","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1126\/science.2134734","article-title":"Type-1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients","volume":"249","author":"Wallace","year":"1990","journal-title":"Science"},{"key":"2020102011350643600_ref5","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/363458a0","article-title":"Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A","volume":"363","author":"Mulligan","year":"1993","journal-title":"Nature"},{"key":"2020102011350643600_ref6","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1126\/science.8493574","article-title":"Identification of the von Hippel-Lindau disease tumor suppressor gene","volume":"260","author":"Latif","year":"1993","journal-title":"Science"},{"key":"2020102011350643600_ref7","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1126\/science.287.5454.848","article-title":"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma","volume":"287","author":"Baysal","year":"2000","journal-title":"Science"},{"key":"2020102011350643600_ref8","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1016\/S0140-6736(00)04378-6","article-title":"Germline SDHD mutation in familial phaeochromocytoma","volume":"4","author":"Astuti","year":"2001","journal-title":"Lancet"},{"key":"2020102011350643600_ref9","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","author":"Astuti","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2020102011350643600_ref10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s10689-004-0621-1","article-title":"SDHC mutations in hereditary paraganglioma\/pheochromocytoma","volume":"4","author":"M\u00fcller","year":"2005","journal-title":"Familial Cancer"},{"key":"2020102011350643600_ref11","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1056\/NEJMoa020152","article-title":"Germ-line mutations in nonsyndromic pheochromocytoma","volume":"346","author":"Neumann","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"2020102011350643600_ref12","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14289","article-title":"A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: beyond phaeochromocytoma and paraganglioma","author":"MacFarlane","year":"2020","journal-title":"Clin. Endocrinol."},{"key":"2020102011350643600_ref13","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1210\/jc.2018-02411","article-title":"Positive impact of genetic test on the management and outcome of patients with paraganglioma and\/or pheochromocytoma","volume":"104","author":"Buffet","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2020102011350643600_ref14","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1371\/journal.pgen.0010008","article-title":"A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas","volume":"1","author":"Dahia","year":"2005","journal-title":"PLoS Genet."},{"key":"2020102011350643600_ref15","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nrc3648","article-title":"Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity","volume":"14","author":"Dahia","year":"2014","journal-title":"Nat. Rev. Cancer"},{"key":"2020102011350643600_ref16","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","author":"Letouz\u00e9","year":"2013","journal-title":"Cancer Cell"},{"key":"2020102011350643600_ref17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/cge.13553","article-title":"Clinical implications of the oncometabolite succinate in SDHx-mutation carriers","volume":"97","author":"Eijkelenkamp","year":"2020","journal-title":"Clin. Genet."},{"key":"2020102011350643600_ref18","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2133.2005.06678.x","article-title":"Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer","volume":"153","author":"Alam","year":"2005","journal-title":"Br. J. Dermatol."},{"key":"2020102011350643600_ref19","doi-asserted-by":"crossref","first-page":"E2046","DOI":"10.1210\/jc.2014-1659","article-title":"Germline FH mutations presenting with pheochromocytoma","volume":"99","author":"Clark","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2020102011350643600_ref20","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1038\/s41436-018-0068-7","article-title":"Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients","volume":"20","author":"Calsina","year":"2018","journal-title":"Genet Med."},{"key":"2020102011350643600_ref21","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1158\/0008-5472.CAN-17-2463","article-title":"Germline mutations in the mitochondrial 2-Oxoglutarate\/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas","volume":"78","author":"Buffet","year":"2018","journal-title":"Cancer Res."},{"key":"2020102011350643600_ref22","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.ajhg.2019.02.017","article-title":"Recurrent germline DLST mutations in individuals with multiple pheochromocytomas and paragangliomas","volume":"104","author":"Remacha","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2020102011350643600_ref23","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1038\/s41436-018-0003-y","article-title":"Gain-of-function mutations in DNMT3A in patients with paraganglioma","volume":"20","author":"Remacha","year":"2018","journal-title":"Genet Med."},{"key":"2020102011350643600_ref24","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng.533","article-title":"Germline mutations in TMEM127 confer susceptibility to pheochromocytoma","volume":"42","author":"Qin","year":"2010","journal-title":"Nat. Genet."},{"key":"2020102011350643600_ref25","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ng.861","article-title":"Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma","volume":"19","author":"Comino-M\u00e9ndez","year":"2011","journal-title":"Nat. Genet."},{"key":"2020102011350643600_ref26","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1200\/JCO.2012.47.1912","article-title":"New syndrome of paraganglioma and somatostatinoma associated with polycythemia","volume":"31","author":"Pacak","year":"2013","journal-title":"J. Clin. Oncol."},{"key":"2020102011350643600_ref27","doi-asserted-by":"crossref","first-page":"2685","DOI":"10.1056\/NEJMoa0806277","article-title":"PHD2 mutation and congenital erythrocytosis with paraganglioma","volume":"359","author":"Ladroue","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"2020102011350643600_ref28","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ccell.2017.01.001","article-title":"Comprehensive molecular characterization of pheochromocytoma and paraganglioma","volume":"31","author":"Fishbein","year":"2017","journal-title":"Cancer Cell"},{"key":"2020102011350643600_ref29","first-page":"765","article-title":"Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors","volume":"60","author":"Prowse","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"2020102011350643600_ref30","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1530\/ERC-19-0024","article-title":"Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis","volume":"26","author":"Crona","year":"2019","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/ERC-17-0306","article-title":"TERT structural rearrangements in metastatic pheochromocytomas","volume":"25","author":"Dwight","year":"2018","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref32","doi-asserted-by":"crossref","first-page":"138573","DOI":"10.1155\/2015\/138573","article-title":"Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis","volume":"2015","author":"Luchetti","year":"2015","journal-title":"Int. J. Endocrinol."},{"key":"2020102011350643600_ref33","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.molcel.2008.04.009","article-title":"Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway","volume":"30","author":"Kaelin","year":"2008","journal-title":"Mol. Cell"},{"key":"2020102011350643600_ref34","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/nrc3844","article-title":"VHL, the story of a tumour suppressor gene","volume":"15","author":"Gossage","year":"2015","journal-title":"Nat. Rev. Cancer"},{"key":"2020102011350643600_ref35","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ccr.2004.11.022","article-title":"Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase","volume":"7","author":"Selak","year":"2005","journal-title":"Cancer Cell"},{"key":"2020102011350643600_ref36","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1530\/ERC-13-0101","article-title":"In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas","volume":"20","author":"Toledo","year":"2013","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref37","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1038\/s41588-018-0170-4","article-title":"Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair","volume":"50","author":"Sulkowski","year":"2018","journal-title":"Nat. Genet."},{"key":"2020102011350643600_ref38","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/s41586-020-2363-0","article-title":"Oncometabolites suppress DNA repair by disrupting local chromatin signalling","volume":"582","author":"Sulkowski","year":"2020","journal-title":"Nature"},{"key":"2020102011350643600_ref39","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1530\/ERC-13-0429","article-title":"Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia","volume":"21","author":"Papathomas","year":"2014","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref40","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms7140","article-title":"Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas","volume":"6","author":"Fishbein","year":"2015","journal-title":"Nat. Commun."},{"key":"2020102011350643600_ref41","doi-asserted-by":"crossref","first-page":"bvaa039","DOI":"10.1210\/jendso\/bvaa039","article-title":"Pheochromocytoma and paraganglioma in children and adolescents: experience of the French Society of Pediatric Oncology (SFCE)","volume":"4","author":"Tersant","year":"2020","journal-title":"J. Endocr. Soc."},{"key":"2020102011350643600_ref42","first-page":"5615","article-title":"Mutations in the SDHB gene are associated with extra-adrenal and\/or malignant phaeochromocytomas","volume":"1","author":"Gimenez-Roqueplo","year":"2003","journal-title":"Cancer Res."},{"key":"2020102011350643600_ref43","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1136\/jmedgenet-2015-103218","article-title":"Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients","volume":"52","author":"Curr\u00e1s-Freixes","year":"2015","journal-title":"J. Med. Genet."},{"key":"2020102011350643600_ref44","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1530\/ERC-13-0415","article-title":"Long-term prognosis of patients with pediatric pheochromocytoma","volume":"21","author":"Bausch","year":"2014","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref45","first-page":"69","article-title":"Metabologenomics of phaeochromocytoma and paraganglioma: an integrated approach for personalised biochemical and genetic testing","volume":"38","author":"Eisenhofer","year":"2017","journal-title":"Clin. Biochem. Rev."},{"key":"2020102011350643600_ref46","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1677\/ERC-10-0211","article-title":"Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma","volume":"18","author":"Eisenhofer","year":"2011","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref47","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1093\/hmg\/ddt639","article-title":"Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas","volume":"1","author":"Castro-Vega","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"2020102011350643600_ref48","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1053\/j.semdp.2013.06.006","article-title":"Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments","volume":"30","author":"Papathomas","year":"2003","journal-title":"Semin. Diagn. Pathol."},{"key":"2020102011350643600_ref49","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/S1470-2045(09)70164-0","article-title":"An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis","volume":"10","author":"Nederveen","year":"2009","journal-title":"Lancet Oncol."},{"key":"2020102011350643600_ref50","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","author":"Papathomas","year":"2015","journal-title":"Mod. Pathol."},{"key":"2020102011350643600_ref51","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/path.2932","article-title":"Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status","volume":"225","author":"Bardella","year":"2011","journal-title":"J. Pathol."},{"key":"2020102011350643600_ref52","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/s41379-019-0343-4","article-title":"Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study","volume":"33","author":"Favier","year":"2020","journal-title":"Mod. Pathol."},{"key":"2020102011350643600_ref53","doi-asserted-by":"crossref","first-page":"4013","DOI":"10.1210\/jc.2017-00562","article-title":"Clinical and molecular features of renal and pheochromocytoma\/paraganglioma tumor association syndrome (RAPTAS): case series and literature review","volume":"1","author":"Casey","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2020102011350643600_ref54","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2019-106519","article-title":"Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma","author":"Buffet","year":"2020","journal-title":"J. Med. Genet."},{"key":"2020102011350643600_ref55","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1530\/ERC-14-0254","article-title":"Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in carney triad","volume":"21","author":"Haller","year":"2014","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref56","doi-asserted-by":"crossref","first-page":"10244","DOI":"10.1038\/s41598-019-46124-9","article-title":"SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice","volume":"9","author":"Casey","year":"2019","journal-title":"Sci. Rep."},{"key":"2020102011350643600_ref57","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.tem.2017.08.001","article-title":"New insights into the nuclear imaging phenotypes of cluster 1 pheochromocytoma and paraganglioma","volume":"28","author":"Ta\u00efeb","year":"2017","journal-title":"Trends Endocrinol. Metab."},{"key":"2020102011350643600_ref58","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1530\/ERC-11-0243","article-title":"False-negative 123I-MIBG SPECT is most commonly found in SDHB-related pheochromocytoma or paraganglioma with high frequency to develop metastatic disease","volume":"19","author":"Fonte","year":"2012","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref59","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":"Plouin","year":"2016","journal-title":"Eur. J. Endocrinol."},{"key":"2020102011350643600_ref60","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.2967\/jnumed.114.137034","article-title":"Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma","volume":"55","author":"Berkel","year":"2014","journal-title":"J. Nucl. Med."},{"key":"2020102011350643600_ref61","doi-asserted-by":"crossref","first-page":"369","DOI":"10.2967\/jnumed.118.211706","article-title":"Performance of 68Ga-DOTA-conjugated somatostatin receptor-targeting peptide PET in detection of pheochromocytoma and paraganglioma: a systematic review and Metaanalysis","volume":"60","author":"Han","year":"2019","journal-title":"J. Nucl. Med."},{"key":"2020102011350643600_ref62","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1177\/0284185118764206","article-title":"68Ga-somatostatin receptor analogs and 18F-FDG PET\/CT in the localization of metastatic pheochromocytomas and paragangliomas with germline mutations: a meta-analysis","volume":"59","author":"Kan","year":"2018","journal-title":"Acta Radiol."},{"key":"2020102011350643600_ref63","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1007\/s00259-019-04435-z","article-title":"Current experts\u2019 views on precision nuclear medicine imaging of phaeochromocytoma and paraganglioma","volume":"46","author":"Ta\u00efeb","year":"2019","journal-title":"Eur. J. Nucl. Med. Mol. Imaging"},{"key":"2020102011350643600_ref64","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s00441-018-2791-4","article-title":"Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma","volume":"372","author":"Ta\u00efeb","year":"2018","journal-title":"Cell Tissue Res."},{"key":"2020102011350643600_ref65","first-page":"2","article-title":"Comparison of pheochromocytoma-specific morbidity and mortality among adults with bilateral Pheochromocytomas undergoing total adrenalectomy vs cortical-sparing adrenalectomy","volume":"e198898","author":"Neumann","year":"2019","journal-title":"JAMA Netw. Open"},{"key":"2020102011350643600_ref66","doi-asserted-by":"crossref","first-page":"L69","DOI":"10.1530\/ERC-17-0206","article-title":"A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery","volume":"24","author":"Casey","year":"2017","journal-title":"Endocr. Relat. Cancer"},{"key":"2020102011350643600_ref67","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","author":"Maher","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"2020102011350643600_ref68","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/s10689-014-9735-2","article-title":"Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment","volume":"13","author":"Menko","year":"2014","journal-title":"Familial Cancer"},{"key":"2020102011350643600_ref69","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1089\/thy.2014.0335","article-title":"Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma","volume":"25","author":"Wells","year":"2015","journal-title":"Thyroid"},{"key":"2020102011350643600_ref70","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/gim.2018.28","article-title":"Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"20","author":"Stewart","year":"2018","journal-title":"Genet Med."},{"key":"2020102011350643600_ref71","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1055\/a-0715-1888","article-title":"Metastatic phaeochromocytoma: spinning towards more promising treatment options","volume":"127","author":"N\u00f6lting","year":"2019","journal-title":"Exp. Clin. Endocrinol. Diabetes"},{"key":"2020102011350643600_ref72","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000499497","article-title":"Peptide receptor radionuclide therapy as a novel treatment for metastatic and invasive phaeochromocytoma and paraganglioma","volume":"109","author":"Mak","year":"2019","journal-title":"Neuroendocrinology"},{"key":"2020102011350643600_ref73","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1517\/14656566.2015.1058359","article-title":"First-line treatment in the management of advanced renal cell carcinoma: systematic review and network meta-analysis","volume":"16","author":"Larkin","year":"2015","journal-title":"Expert. Opin. Pharmacother."},{"key":"2020102011350643600_ref74","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1016\/j.drudis.2019.09.008","article-title":"Allosteric inhibition of HIF-2\u03b1 as a novel therapy for clear cell renal cell carcinoma","volume":"24","author":"Yu","year":"2019","journal-title":"Drug Discov. Today"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa201\/33893674\/ddaa201.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/R2\/R128\/33962835\/ddaa201.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/R2\/R128\/33962835\/ddaa201.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T15:36:15Z","timestamp":1603208175000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/R2\/R128\/5924365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,1]]},"references-count":74,"journal-issue":{"issue":"R2","published-online":{"date-parts":[[2020,10,20]]},"published-print":{"date-parts":[[2020,10,20]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa201","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,10,1]]},"published":{"date-parts":[[2020,10,1]]}}}