{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T01:41:43Z","timestamp":1791942103444,"version":"4.3.4"},"reference-count":54,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T00:00:00Z","timestamp":1675728000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,2,7]]},"abstract":"<jats:p>Paragangliomas (PGL) of the adrenal (also known as pheochromocytomas) or extra-adrenal neural crest-derived cells are highly heritable tumors, usually driven by single pathogenic variants that occur mutually exclusively in genes involved in multiple cellular processes, including the response to hypoxia, MAPK\/ERK signaling, and WNT signaling. The discovery of driver mutations has led to active clinical surveillance with outcome implications in familial PGL. The spectrum of mutations continues to grow and reveal unique mechanisms of tumorigenesis that inform tumor biology and provide the rationale for targeted therapy. Here we review recent progress in the genetics and molecular pathogenesis of PGLs and discuss new prospects for advancing research with new disease models and ongoing clinical trials presented at the recent International Symposium of Pheochromocytomas and Paragangliomas (ISP2022) held in October 2022 in Prague.<\/jats:p>","DOI":"10.1530\/erc-22-0373","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T07:11:44Z","timestamp":1675753904000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":33,"title":["Update on the genetics of paragangliomas"],"prefix":"10.1530","volume":"30","author":[{"given":"Anne-Paule","family":"Gimenez-Roqueplo","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, PARCC, INSERM, Paris, France"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9nomique des Tumeurs et des Cancers, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6256-5902","authenticated-orcid":true,"given":"Mercedes","family":"Robledo","sequence":"additional","affiliation":[{"name":"Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain"},{"name":"Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7757-370X","authenticated-orcid":true,"given":"Patricia L M","family":"Dahia","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department Medicine, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA"},{"name":"Mays Cancer Center at UTHSCSA, San Antonio, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Molecular Cancer Research","first-page":"1476","article-title":"Mastermind like transcriptional coactivator 3 (MAML3) drives neuroendocrine tumor progression","volume":"19","author":"Alzofon","year":"2021","unstructured":"Alzofon NKoc KPanwell KPozdeyev NMarshall CBAlbuja-Cruz MRaeburn CDNathanson KLCohen DLWierman ME2021Mastermind like transcriptional coactivator 3 (MAML3) drives neuroendocrine tumor progression. Molecular Cancer Research191476\u20131485. (https:\/\/doi.org\/10.1158\/1541-7786.MCR-20-0992)"},{"key":"bib2","series-title":"Nature Reviews. Endocrinology","first-page":"435","article-title":"International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers","volume":"17","author":"Amar","year":"2021","unstructured":"Amar LPacak KSteichen OAkker SAAylwin SJBBaudin EBuffet ABurnichon NClifton-Bligh RJDahia PLM2021International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nature Reviews. Endocrinology17435\u2013444. (https:\/\/doi.org\/10.1038\/s41574-021-00492-3)"},{"key":"bib3","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"e350","article-title":"Genotype-phenotype features of germline variants of the TMEM127 pheochromocytoma susceptibility gene: a 10-year update","volume":"106","author":"Armaiz-Pena","year":"2021","unstructured":"Armaiz-Pena GFlores SKCheng ZMZhang XEsquivel EPoullard NVaidyanathan ALiu QMichalek JSantillan-Gomez AA2021Genotype-phenotype features of germline variants of the TMEM127 pheochromocytoma susceptibility gene: a 10-year update. Journal of Clinical Endocrinology and Metabolism106e350\u2013e364. (https:\/\/doi.org\/10.1210\/clinem\/dgaa741)"},{"key":"bib4","series-title":"Cell Reports","article-title":"SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB\/NF1 loss yields SDHx-like pheochromocytomas","volume":"38","author":"Armstrong","year":"2022","unstructured":"Armstrong NStorey CMNoll SEMargulis KSoe MHXu HYeh BFishbein LKebebew EHowitt BE2022SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB\/NF1 loss yields SDHx-like pheochromocytomas. Cell Reports38 110453. (https:\/\/doi.org\/10.1016\/j.celrep.2022.110453)"},{"key":"bib5","series-title":"Annals of Oncology","article-title":"567O First International Randomized Study in Malignant Progressive Pheochromocytoma and Paragangliomas (FIRSTMAPPP): an academic double-blind trial investigating sunitinib","volume":"32","author":"Baudin","year":"2021","unstructured":"Baudin EGoichot BBerruti AHadoux JMoalla SLaboureau SNoelting SDe La Fouchardi\u00e8re CKienitz TDeutschbein T2021567O First International Randomized Study in Malignant Progressive Pheochromocytoma and Paragangliomas (FIRSTMAPPP): an academic double-blind trial investigating sunitinib. Annals of Oncology32 S621. (https:\/\/doi.org\/10.1016\/j.annonc.2021.08.702)"},{"key":"bib6","series-title":"Journal of Medical Genetics","first-page":"785","article-title":"International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma","volume":"59","author":"Ben Aim","year":"2022","unstructured":"Ben Aim LMaher ERCascon ABarlier AGiraud SErcolino TPigny PClifton-Bligh RJMirebeau-Prunier DMohamed A2022International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. Journal of Medical Genetics59785\u2013792. (https:\/\/doi.org\/10.1136\/jmedgenet-2020-107652)"},{"key":"bib7","series-title":"Human Molecular Genetics","first-page":"2395","article-title":"The DNA methyltransferases of mammals","volume":"9","author":"Bestor","year":"2000","unstructured":"Bestor TH2000The DNA methyltransferases of mammals. Human Molecular Genetics92395\u20132402. (https:\/\/doi.org\/10.1093\/hmg\/9.16.2395)"},{"key":"bib8","series-title":"Permanente Journal","first-page":"1","article-title":"Concurrent Birt-Hogg-Dube syndrome and hereditary paraganglioma-pheochromocytoma syndrome presenting as metastatic renal cell carcinoma in a 25-year-old man: a case report","volume":"24","author":"Boland","year":"2020","unstructured":"Boland JShahbazi DStevenson RShahbazi S2020Concurrent Birt-Hogg-Dube syndrome and hereditary paraganglioma-pheochromocytoma syndrome presenting as metastatic renal cell carcinoma in a 25-year-old man: a case report. Permanente Journal241\u20136. (https:\/\/doi.org\/10.7812\/TPP\/19.193)"},{"key":"bib9","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1109","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","unstructured":"Buffet ABen Aim LLeboulleux SDrui DVezzosi DLibe RAjzenberg CBernardeschi DCariou BChabolle F2019Positive impact of genetic test on the management and outcome of patients with paraganglioma and\/or pheochromocytoma. Journal of Clinical Endocrinology and Metabolism1041109\u20131118. (https:\/\/doi.org\/10.1210\/jc.2018-02411)"},{"key":"bib10","series-title":"Journal of Medical Genetics","first-page":"752","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","volume":"57","author":"Buffet","year":"2020","unstructured":"Buffet ACalsina BFlores SGiraud SLenglet MRomanet PDeflorenne EAller JBourdeau IBressac-De Paillerets B2020Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. Journal of Medical Genetics57752\u2013759. (https:\/\/doi.org\/10.1136\/jmedgenet-2019-106519)"},{"key":"bib11","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"459","article-title":"Germline DLST variants promote epigenetic modifications in pheochromocytoma-paraganglioma","volume":"106","author":"Buffet","year":"2021","unstructured":"Buffet AZhang JRebel HCorssmit EPMJansen JCHensen EFBovee JVMGMorini AGimenez-Roqueplo APHes FJ2021Germline DLST variants promote epigenetic modifications in pheochromocytoma-paraganglioma. Journal of Clinical Endocrinology and Metabolism106459\u2013471. (https:\/\/doi.org\/10.1210\/clinem\/dgaa819)"},{"key":"bib12","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3362","article-title":"A full phenotype of paraganglioma linked to a germline SDHB mosaic mutation","volume":"104","author":"Cardot-Bauters","year":"2019","unstructured":"Cardot-Bauters CCarnaille BAubert SCrepin MBoury SBurnichon NPigny P2019A full phenotype of paraganglioma linked to a germline SDHB mosaic mutation. Journal of Clinical Endocrinology and Metabolism1043362\u20133366. (https:\/\/doi.org\/10.1210\/jc.2019-00175)"},{"key":"bib13","series-title":"Clinical Endocrinology","first-page":"506","article-title":"Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?","volume":"69","author":"Cardot-Bauters","year":"2008","unstructured":"Cardot-Bauters CLeteurtre ELeclerc LVantyghem MCDo Cao CWemeau JLD'herbomez MCarnaille BBarbu VPinson S2008Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?Clinical Endocrinology69506\u2013510. (https:\/\/doi.org\/10.1111\/j.1365-2265.2008.03230.x)"},{"key":"bib14","series-title":"Proceedings of the MEN2019 Workshop","first-page":"T41","article-title":"Hereditary endocrine tumours: current state-of-the-art and research opportunities: metastatic pheochromocytomas and paragangliomas: Proceedings of the MEN2019 workshop","volume":"27","author":"Dahia","year":"2020","unstructured":"Dahia PLMClifton-Bligh RGimenez-Roqueplo APRobledo MJimenez C2020Hereditary endocrine tumours: current state-of-the-art and research opportunities: metastatic pheochromocytomas and paragangliomas: Proceedings of the MEN2019 workshopProceedings of the MEN2019 Workshop. Endocrine-Related Cancer27T41\u2013T52. (https:\/\/doi.org\/10.1530\/ERC-19-0435)"},{"key":"bib15","series-title":"Journal of Clinical Endocrinology and Metabolism","article-title":"Surveillance improves outcomes for carriers of SDHB pathogenic variants: a multicenter study","volume":"107","author":"Davidoff","year":"2022","unstructured":"Davidoff DFBenn DEField MCrook ARobinson BGTucker KDe Abreu Lourenco RBurgess JRClifton-Bligh RJ2022Surveillance improves outcomes for carriers of SDHB pathogenic variants: a multicenter study. Journal of Clinical Endocrinology and Metabolism107 e1907\u2013e1916. (https:\/\/doi.org\/10.1210\/clinem\/dgac019)"},{"key":"bib16","series-title":"Journal of the Endocrine Society","article-title":"Aberrant splicing of SDHC in families with unexplained succinate dehydrogenase-deficient paragangliomas","volume":"4","author":"De Sousa","year":"2020","unstructured":"De Sousa SMCToubia JHardy TSEFeng JWang PSchreiber AWGeoghegan JHall RRawlings LBuckland M2020Aberrant splicing of SDHC in families with unexplained succinate dehydrogenase-deficient paragangliomas. Journal of the Endocrine Society4 bvaa071. (https:\/\/doi.org\/10.1210\/jendso\/bvaa071)"},{"key":"bib17","series-title":"Cell Reports. Medicine","article-title":"A RET::GRB2 fusion in pheochromocytoma defies the classic paradigm of RET oncogenic fusions","volume":"3","author":"Estrada-Zuniga","year":"2022","unstructured":"Estrada-Zuniga CMCheng ZMEthiraj PGuo QGonzalez-Cantu HAdderley ELopez HLandry BNZainal AAronin N2022A RET::GRB2 fusion in pheochromocytoma defies the classic paradigm of RET oncogenic fusions. Cell Reports. Medicine3 100686. (https:\/\/doi.org\/10.1016\/j.xcrm.2022.100686)"},{"key":"bib18","series-title":"Genes and Development","first-page":"1036","article-title":"Neuroblast differentiation during development and in neuroblastoma requires KIF1Bbeta-mediated transport of TRKA","volume":"31","author":"Fell","year":"2017","unstructured":"Fell SMLi SWallis KKock ASurova ORraklli VHofig CsLi WMittag JHenriksson MA2017Neuroblast differentiation during development and in neuroblastoma requires KIF1Bbeta-mediated transport of TRKA. Genes and Development311036\u20131053. (https:\/\/doi.org\/10.1101\/gad.297077.117)"},{"key":"bib19","series-title":"Pancreas","first-page":"469","article-title":"The North American Neuroendocrine Tumor Society consensus guidelines for surveillance and management of metastatic and\/or unresectable pheochromocytoma and paraganglioma","volume":"50","author":"Fishbein","year":"2021","unstructured":"Fishbein LDel Rivero JElse THowe JRAsa SLCohen DLDahia PLMFraker DLGoodman KAHope TA2021The North American Neuroendocrine Tumor Society consensus guidelines for surveillance and management of metastatic and\/or unresectable pheochromocytoma and paraganglioma. Pancreas50469\u2013493. (https:\/\/doi.org\/10.1097\/MPA.0000000000001792)"},{"key":"bib20","series-title":"Cancer Cell","first-page":"181","article-title":"Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma","volume":"31","author":"Fishbein","year":"2017","unstructured":"Fishbein LLeshchiner IWalter VDanilova LRobertson AGJohnson ARLichtenberg TMMurray BAGhayee HKElse T2017Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. Cancer Cell31181\u2013193. (https:\/\/doi.org\/10.1016\/j.ccell.2017.01.001)"},{"key":"bib21","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3826","article-title":"A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease","volume":"104","author":"Flores","year":"2019","unstructured":"Flores SKCheng ZJasper AMNatori KOkamoto TTanabe AGotoh KShibata HSakurai ANakai T2019A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease. Journal of Clinical Endocrinology and Metabolism1043826\u20133834. (https:\/\/doi.org\/10.1210\/jc.2019-00235)"},{"key":"bib22","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"e3142","article-title":"Functional characterization of TMEM127 variants reveals novel insights into its membrane topology and trafficking","volume":"105","author":"Flores","year":"2020","unstructured":"Flores SKDeng YCheng ZZhang XTao SSaliba AChu IBurnichon NGimenez-Roqueplo APWang E2020Functional characterization of TMEM127 variants reveals novel insights into its membrane topology and trafficking. Journal of Clinical Endocrinology and Metabolism105e3142\u2013e3156. (https:\/\/doi.org\/10.1210\/clinem\/dgaa396)"},{"key":"bib23","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"991\u2013","article-title":"Simultaneous Occurrence of Germline Mutations of SDHB and TP53 in a Patient with Metastatic Pheochromocytoma","volume":"105","author":"Gniado","year":"2020","unstructured":"Gniado ECarracher CP & Sharma S2020Simultaneous Occurrence of Germline Mutations of SDHB and TP53 in a Patient with Metastatic Pheochromocytoma. Journal of Clinical Endocrinology and Metabolism105991\u2013995. (https:\/\/doi.org\/10.1210\/clinem\/dgz269)"},{"key":"bib24","series-title":"Genetics in Medicine","first-page":"2101","article-title":"Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome","volume":"22","author":"Greenberg","year":"2020","unstructured":"Greenberg SEJacobs MFWachtel HAnson ABuchmann LCohen DLBonanni MBennett BNaumer ASchaefer AM2020Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome. Genetics in Medicine222101\u20132107. (https:\/\/doi.org\/10.1038\/s41436-020-0921-3)"},{"key":"bib25","series-title":"Cell","first-page":"557","article-title":"PTC is a novel rearranged form of the RET proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas","volume":"60","author":"Grieco","year":"1990","unstructured":"Grieco MSantoro MBerlingieri MTMelillo RMDonghi RBongarzone IPierotti MADella Porta GFusco AVecchio G1990PTC is a novel rearranged form of the RET proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell60557\u2013563. (https:\/\/doi.org\/10.1016\/0092-8674(9090659-3)"},{"key":"bib27","series-title":"Cell Reports","article-title":"Genetic impairment of succinate metabolism disrupts bioenergetic sensing in adrenal neuroendocrine cancer","volume":"40","author":"Gupta","year":"2022","unstructured":"Gupta PStrange KTelange RGuo AHatch HSobh AElie JCarter AMTotenhagen JTan C2022Genetic impairment of succinate metabolism disrupts bioenergetic sensing in adrenal neuroendocrine cancer. Cell Reports40 111218. (https:\/\/doi.org\/10.1016\/j.celrep.2022.111218)"},{"key":"bib28","series-title":"Journal of the National Cancer Institute","first-page":"130","article-title":"Germline SUCLG2 variants in patients with pheochromocytoma and paraganglioma","volume":"114","author":"Hadrava Vanova","year":"2022","unstructured":"Hadrava Vanova KPang YKrobova LKraus MNahacka ZBoukalova SPack SDZobalova RZhu JHuynh TT2022Germline SUCLG2 variants in patients with pheochromocytoma and paraganglioma. Journal of the National Cancer Institute114130\u2013138. (https:\/\/doi.org\/10.1093\/jnci\/djab158)"},{"key":"bib29","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2367","article-title":"Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono study): a European Network for the Study of Adrenal Tumors retrospective study","volume":"104","author":"Hescot","year":"2019","unstructured":"Hescot SCurras-Freixes MDeutschbein Tvan Berkel AVezzosi DAmar Lde la Fouchardi\u00e8re CValdes NRiccardi FDo Cao C2019Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono study): a European Network for the Study of Adrenal Tumors retrospective study. Journal of Clinical Endocrinology and Metabolism1042367\u20132374. (https:\/\/doi.org\/10.1210\/jc.2018-01968)"},{"key":"bib30","series-title":"Genes, Chromosomes and Cancer","first-page":"85","article-title":"Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: a unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors","volume":"62","author":"Javaid","year":"2023","unstructured":"Javaid SPatton ATinoco GOghumu SIwenofu OH2023Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: a unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors. Genes, Chromosomes and Cancer6285\u201392. (https:\/\/doi.org\/10.1002\/gcc.23094)"},{"key":"bib31","series-title":"New England Journal of Medicine","first-page":"2036","article-title":"Belzutifan for renal cell carcinoma in von Hippel-Lindau disease","volume":"385","author":"Jonasch","year":"2021","unstructured":"Jonasch EDonskov FIliopoulos ORathmell WKNarayan VKMaughan BLOudard SElse TMaranchie JKWelsh SJ2021Belzutifan for renal cell carcinoma in von Hippel-Lindau disease. New England Journal of Medicine3852036\u20132046. (https:\/\/doi.org\/10.1056\/NEJMoa2103425)"},{"key":"bib32","series-title":"New England Journal of Medicine","first-page":"2059","article-title":"Belzutifan, a potent HIF2alpha inhibitor, in the Pacak-Zhuang syndrome","volume":"385","author":"Kamihara","year":"2021","unstructured":"Kamihara JHamilton KVPollard JAClinton CMMadden JALin JImamovic AWall CBWassner AJWeil BR2021Belzutifan, a potent HIF2alpha inhibitor, in the Pacak-Zhuang syndrome. New England Journal of Medicine3852059\u20132065. (https:\/\/doi.org\/10.1056\/NEJMoa2110051)"},{"key":"bib33","series-title":"Nature Medicine","first-page":"375","article-title":"KIF5B-RET fusions in lung adenocarcinoma","volume":"18","author":"Kohno","year":"2012","unstructured":"Kohno TIchikawa HTotoki YYasuda KHiramoto MNammo TSakamoto HTsuta KFuruta KShimada Y2012KIF5B-RET fusions in lung adenocarcinoma. Nature Medicine18375\u2013377. (https:\/\/doi.org\/10.1038\/nm.2644)"},{"key":"bib34","series-title":"Journal of Hypertension","first-page":"1443","article-title":"Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension","volume":"38","author":"Lenders","year":"2020","unstructured":"Lenders JWMKerstens MNAmar LPrejbisz ARobledo MTaieb DPacak KCrona JZelinka TMannelli M2020Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension. Journal of Hypertension381443\u20131456. (https:\/\/doi.org\/10.1097\/HJH.0000000000002438)"},{"key":"bib35","series-title":"Blood","first-page":"469","article-title":"Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease","volume":"132","author":"Lenglet","year":"2018","unstructured":"Lenglet MRobriquet FSchwarz KCamps CCouturier AHoogewijs DBuffet AKnight SJLGad SCouve S2018Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Blood132469\u2013483. (https:\/\/doi.org\/10.1182\/blood-2018-03-838235)"},{"key":"bib36","series-title":"BMC Medical Genetics","article-title":"Case report: a synonymous VHL mutation","volume":"21","author":"Liu","year":"2020","unstructured":"Liu FCalhoun BAlam MsSun MWang XZhang CHaldar KLu X2020Case report: a synonymous VHL mutation. BMC Medical Genetics21 42. (https:\/\/doi.org\/10.1186\/s12881-020-0976-7)"},{"key":"bib37","series-title":"Cancers (Basel)","article-title":"Novel DNMT3A germline variant in a patient with multiple paragangliomas and papillary thyroid carcinoma","volume":"12","author":"Mellid","year":"2020","unstructured":"Mellid SColoma JCalsina BMonteagudo MRoldan-Romero JmSantos MLeandro-Garcia LjLanillos JMartinez-Montes \u00c1mRodriguez-Antona C2020Novel DNMT3A germline variant in a patient with multiple paragangliomas and papillary thyroid carcinoma. Cancers (Basel)123304. (https:\/\/doi.org\/10.3390\/cancers12113304)"},{"key":"bib38","series-title":"Endocrine Pathology","first-page":"90","article-title":"Overview of the 2022 WHO classification of paragangliomas and pheochromocytomas","volume":"33","author":"Mete","year":"2022","unstructured":"Mete OAsa SLGill AJKimura NDe Krijger RRTischler A2022Overview of the 2022 WHO classification of paragangliomas and pheochromocytomas. Endocrine Pathology3390\u2013114. (https:\/\/doi.org\/10.1007\/s12022-022-09704-6)"},{"key":"bib39","series-title":"JCO Precision Oncology","first-page":"1160","article-title":"Novel RET fusion RET-SEPTIN9 predicts response to selective RET inhibition with selpercatinib in malignant pheochromocytoma","volume":"5","author":"Mweempwa","year":"2021","unstructured":"Mweempwa AXu HVissers JHATothill RWPattison ADFellowes APThomas DMRichardson GHicks RJGrimmond SM2021Novel RET fusion RET-SEPTIN9 predicts response to selective RET inhibition with selpercatinib in malignant pheochromocytoma. JCO Precision Oncology51160\u20131165. (https:\/\/doi.org\/10.1200\/PO.21.00127)"},{"key":"bib40","series-title":"Journal of the National Cancer Institute","first-page":"7","article-title":"Another weak link in the electron transport chain: variants in SUCLG2 and risk for pheochromocytoma and paraganglioma","volume":"114","author":"Ney","year":"2022","unstructured":"Ney GMStewart DR2022Another weak link in the electron transport chain: variants in SUCLG2 and risk for pheochromocytoma and paraganglioma. Journal of the National Cancer Institute1147\u20138. (https:\/\/doi.org\/10.1093\/jnci\/djab160)"},{"key":"bib41","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2545","article-title":"Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease","volume":"107","author":"Ogasawara","year":"2022","unstructured":"Ogasawara TFujii YKakiuchi NShiozawa YSakamoto ROgawa YOotani KIto ETanaka TWatanabe K2022Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease. Journal of Clinical Endocrinology and Metabolism1072545\u20132555. (https:\/\/doi.org\/10.1210\/clinem\/dgac362)"},{"key":"bib42","series-title":"JTO Clinical and Research Reports","article-title":"Catalog of 5' fusion partners in RET+ NSCLC circa 2020","volume":"1","author":"Ou","year":"2020","unstructured":"Ou SIZhu VW2020Catalog of 5' fusion partners in RET+ NSCLC circa 2020. JTO Clinical and Research Reports1 100037. (https:\/\/doi.org\/10.1016\/j.jtocrr.2020.100037)"},{"key":"bib43","series-title":"Genetics in Medicine","first-page":"1644","article-title":"Gain-of-function mutations in DNMT3A in patients with paraganglioma","volume":"20","author":"Remacha","year":"2018","unstructured":"Remacha LCurras-Freixes MTorres-Ruiz RSchiavi FTorres-Perez RCalsina BLeton RComino-Mendez IRoldan-Romero JMMontero-Conde C2018Gain-of-function mutations in DNMT3A in patients with paraganglioma. Genetics in Medicine201644\u20131651. (https:\/\/doi.org\/10.1038\/s41436-018-0003-y)"},{"key":"bib44","series-title":"American Journal of Human Genetics","first-page":"1008","article-title":"Recurrent germline DLST mutations in individuals with multiple pheochromocytomas and paragangliomas","volume":"104","author":"Remacha","year":"2019","unstructured":"Remacha LPirman DMahoney CeColoma JCalsina BCurras-Freixes MLeton RTorres-Perez RRichter SPita G2019Recurrent germline DLST mutations in individuals with multiple pheochromocytomas and paragangliomas. American Journal of Human Genetics1041008\u20131010. (https:\/\/doi.org\/10.1016\/j.ajhg.2019.04.010)"},{"key":"bib45","series-title":"Journal of Clinical Endocrinology and Metabolism","article-title":"Screening of a large cohort of asymptomatic SDHx mutation carriers in routine practice","volume":"106","author":"Saie","year":"2021","unstructured":"Saie CBuffet AAbeillon JDrui DLeboulleux SBertherat JZenaty DStorey CBorson-Chazot FBurnichon N2021Screening of a large cohort of asymptomatic SDHx mutation carriers in routine practice. Journal of Clinical Endocrinology and Metabolism106 e1301\u2013e1315. (https:\/\/doi.org\/10.1210\/clinem\/dgaa888)"},{"key":"bib46","series-title":"Genes (Basel)","article-title":"RET gene fusions in malignancies of the thyroid and other tissues","volume":"11","author":"Santoro","year":"2020","unstructured":"Santoro MMoccia MFederico G & Carlomagno F2020RET gene fusions in malignancies of the thyroid and other tissues. Genes (Basel)11424. (https:\/\/doi.org\/10.3390\/genes11040424)"},{"key":"bib47","series-title":"Annals of Oncology","first-page":"1869","article-title":"Selective RET kinase inhibition for patients with RET-altered cancers","volume":"29","author":"Subbiah","year":"2018","unstructured":"Subbiah VVelcheti VTuch BBEbata KBusaidy NLCabanillas MEWirth LJStock SSmith SLauriault V2018Selective RET kinase inhibition for patients with RET-altered cancers. Annals of Oncology291869\u20131876. (https:\/\/doi.org\/10.1093\/annonc\/mdy137)"},{"key":"bib26","series-title":"Nature Reviews. Endocrinology","first-page":"233","article-title":"Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas","volume":"13","author":"Toledo","year":"2017","unstructured":"The NGS in PPGL (NGSnPPGL) Study Group, Toledo RABurnichon NCascon ABenn DEBayley JPWelander JTops CMFirth HDwight T2017Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nature Reviews. Endocrinology13233\u2013247. (https:\/\/doi.org\/10.1038\/nrendo.2016.185)"},{"key":"bib48","series-title":"Trends in Cancer","first-page":"1074","article-title":"Precision therapy for RET-altered cancers with RET inhibitors","volume":"7","author":"Thein","year":"2021","unstructured":"Thein KZVelcheti VMooers BHMWu JSubbiah V2021Precision therapy for RET-altered cancers with RET inhibitors. Trends in Cancer71074\u20131088. (https:\/\/doi.org\/10.1016\/j.trecan.2021.07.003)"},{"key":"bib49","series-title":"Endocr Reviews","article-title":"Hypoxia Inducible factor 2 alpha (HIF2alpha) inhibitors: targeting genetically driven tumor hypoxia","author":"Toledo","year":"2022","unstructured":"Toledo RAJimenez CArmaiz-Pena GArenillas CCapdevila J & Dahia PLM2022Hypoxia Inducible factor 2 alpha (HIF2alpha) inhibitors: targeting genetically driven tumor hypoxia. Endocr Reviews [epub] bnac025. (https:\/\/doi.org\/10.1210\/endrev\/bnac025)"},{"key":"bib50","series-title":"New England Journal of Medicine","first-page":"1259","article-title":"EPAS1 mutations and paragangliomas in cyanotic congenital heart disease","volume":"378","author":"Vaidya","year":"2018","unstructured":"Vaidya AFlores SKCheng ZMNicolas MDeng YOpotowsky ARLourenco DMBarletta JARana HQPereira MA2018EPAS1 mutations and paragangliomas in cyanotic congenital heart disease. New England Journal of Medicine3781259\u20131261. (https:\/\/doi.org\/10.1056\/NEJMc1716652)"},{"key":"bib51","series-title":"European Journal of Human Genetics","first-page":"1171","article-title":"Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence","volume":"30","author":"Vibert","year":"2022","unstructured":"Vibert RLahlou-Laforet KSamadi MKrivosic VBlanc TAmar LBurnichon NAbadie CRichard SGimenez-Roqueplo AP2022Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence. European Journal of Human Genetics301171\u20131177. (https:\/\/doi.org\/10.1038\/s41431-022-01157-z)"},{"key":"bib52","series-title":"New England Journal of Medicine","first-page":"825","article-title":"Efficacy of selpercatinib in RET-altered thyroid cancers","volume":"383","author":"Wirth","year":"2020","unstructured":"Wirth LJSherman ERobinson BSolomon BKang HLorch JWorden FBrose MPatel JLeboulleux S2020Efficacy of selpercatinib in RET-altered thyroid cancers. New England Journal of Medicine383825\u2013835. (https:\/\/doi.org\/10.1056\/NEJMoa2005651)"},{"key":"bib53","series-title":"Human Genetics","first-page":"279","article-title":"A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors","volume":"124","author":"Yeh","year":"2008","unstructured":"Yeh ITLenci REQin YBuddavarapu KLigon AHLeteurtre EDo Cao CCardot-Bauters CPigny PDahia PL2008A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Human Genetics124279\u2013285. (https:\/\/doi.org\/10.1007\/s00439-008-0553-1)"},{"key":"bib54","series-title":"Nature Communications","article-title":"Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment","volume":"13","author":"Zethoven","year":"2022","unstructured":"Zethoven MMartelotto LPattison ABowen BBalachander SFlynn ARossello FJHogg AMiller JAFrysak Z2022Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment. Nature Communications13 6262. 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