{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T21:14:52Z","timestamp":1789852492415,"version":"4.0.1"},"reference-count":82,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,2]]},"abstract":"\nObjective<\/jats:title>\nOur objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1<\/jats:italic> germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1).<\/jats:p>\n<\/jats:sec>\n\nDesign<\/jats:title>\nWe performed genetic analysis of known tumor predisposition genes, including NF1<\/jats:italic>, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. We did not exclude genes known to cause clinically defined syndromes such as NF1 based on missing phenotypic expression as is commonly practiced.<\/jats:p>\n<\/jats:sec>\n\nMethods<\/jats:title>\nGenetic analysis was performed using NGS (TruSight Cancer Panel\/customized panel by Illumina) for analyzing patients\u2019 blood and tumor samples. Validation was carried out by Sanger sequencing.<\/jats:p>\n<\/jats:sec>\n\nResults<\/jats:title>\nWithin our cohort, three patients, who were identified to carry pathogenic NF1<\/jats:italic> germline mutations, attracted attention, since none of the patients had a clinical suspicion of NF1 and one of them was initially suspected to have MEN2A syndrome due to co-occurrence of a medullary thyroid carcinoma. In these cases, one splice site, one stop and one frameshift mutation in NF1<\/jats:italic> were identified.<\/jats:p>\n<\/jats:sec>\n\nConclusions<\/jats:title>\nSince phenotypical presentation of NF1 is highly variable, we suggest analysis of the NF1<\/jats:italic> gene also in PPGL patients who do not meet diagnostic NF1 criteria. Co-occurrence of medullary thyroid carcinoma and PPGL was found to be a clinical decoy in NF1 diagnostics. These observations underline the value of multi-gene panel NGS for PPGL patients.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-17-0714","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T01:35:12Z","timestamp":1511228112000},"page":"K1-K9","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":22,"title":["Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1"],"prefix":"10.1093","volume":"178","author":[{"given":"Laura","family":"Gieldon","sequence":"first","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"},{"name":"2German Cancer Consortium (DKTK), Dresden, Germany"},{"name":"3German Cancer Research Center (DKFZ), Heidelberg, Germany"},{"name":"4National Center for Tumor Diseases (NCT) Partner Site Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jimmy Rusdian","family":"Masjkur","sequence":"additional","affiliation":[{"name":"5Department of Internal Medicine III, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Richter","sequence":"additional","affiliation":[{"name":"6Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"D\u00e4rr","sequence":"additional","affiliation":[{"name":"7Department of Cardiology and Angiology I, Heart Center Freiburg University, Freiburg, Germany"},{"name":"8Department of Medicine IV, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos","family":"Lahera","sequence":"additional","affiliation":[{"name":"9Endocrinology and Nutrition Department, La Princesa University Hospital, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Aust","sequence":"additional","affiliation":[{"name":"2German Cancer Consortium (DKTK), Dresden, Germany"},{"name":"3German Cancer Research Center (DKFZ), Heidelberg, Germany"},{"name":"4National Center for Tumor Diseases (NCT) Partner Site Dresden, Dresden, Germany"},{"name":"10Institute for Pathology, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"},{"name":"11Tumor- and Normal Tissuebank of the University Cancer Center\/NCT-Standort Dresden, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Zeugner","sequence":"additional","affiliation":[{"name":"10Institute for Pathology, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Rump","sequence":"additional","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Hackmann","sequence":"additional","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"},{"name":"2German Cancer Consortium (DKTK), Dresden, Germany"},{"name":"3German Cancer Research Center (DKFZ), Heidelberg, Germany"},{"name":"4National Center for Tumor Diseases (NCT) Partner Site Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Januszewicz","sequence":"additional","affiliation":[{"name":"12Department of Hypertension, Institute of Cardiology, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Prejbisz","sequence":"additional","affiliation":[{"name":"12Department of Hypertension, Institute of Cardiology, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Eisenhofer","sequence":"additional","affiliation":[{"name":"5Department of Internal Medicine III, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"},{"name":"6Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus at TU Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelin","family":"Schrock","sequence":"additional","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"},{"name":"2German Cancer Consortium (DKTK), Dresden, Germany"},{"name":"3German Cancer Research Center (DKFZ), Heidelberg, Germany"},{"name":"4National Center for Tumor Diseases (NCT) Partner Site Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Robledo","sequence":"additional","affiliation":[{"name":"13Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain"},{"name":"14Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Klink","sequence":"additional","affiliation":[{"name":"1Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany"},{"name":"2German Cancer Consortium (DKTK), Dresden, Germany"},{"name":"3German Cancer Research Center (DKFZ), Heidelberg, Germany"},{"name":"4National Center for Tumor Diseases (NCT) Partner Site Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"ref231","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1530\/EJE-16-0126","article-title":"Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref601","first-page":"81","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"5397","DOI":"10.1093\/hmg\/dds374","article-title":"Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"ref51","article-title":"Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.","volume":"107","year":"2015","journal-title":"Journal of the National Cancer Institute"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.185","article-title":"Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas","volume":"13","year":"2017","journal-title":"Nature Reviews Endocrinology"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/TEN.0b013e3181913188","article-title":"Coincidence of neurofibromatosis type 1 and multiple endocrine neoplasia type 2","volume":"18","year":"2008","journal-title":"Endocrinologist"},{"key":"ref721","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/humu.9245","article-title":"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1","volume":"23","year":"2004","journal-title":"Human Mutation"},{"key":"ref701","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s13053-016-0051-8","article-title":"An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis","volume":"14","year":"2016","journal-title":"Hereditary Cancer in Clinical Practice"},{"key":"ref491","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":"23","year":"2014","journal-title":"Human Molecular Genetics"},{"key":"ref401","first-page":"141","article-title":"Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.","volume":"86","year":"2016","journal-title":"Clinical Endocrinology"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cancergen.2012.01.009","article-title":"Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background","volume":"205","year":"2012","journal-title":"Cancer Genetics"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"e1006248","DOI":"10.1371\/journal.pgen.1006248","article-title":"Identification and functional testing of ERCC2 mutations in a multi-national cohort of patients with familial breast- and ovarian cancer","volume":"12","year":"2016","journal-title":"PLOS Genetics"},{"key":"ref611","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1097\/00005392-199909010-00004","article-title":"Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma","volume":"162","year":"1999","journal-title":"Journal of Urology"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1097\/00005392-199909010-00004","article-title":"Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma","volume":"162","year":"1999","journal-title":"Journal of Urology"},{"key":"ref451","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":"43","year":"2011","journal-title":"Nature Genetics"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/TEN.0b013e3181913188","article-title":"Coincidence of neurofibromatosis type 1 and multiple endocrine neoplasia type 2","volume":"18","year":"2008","journal-title":"Endocrinologist"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cancergen.2012.01.009","article-title":"Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background","volume":"205","year":"2012","journal-title":"Cancer Genetics"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1111\/j.1365-2362.2009.02174.x","article-title":"Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.","volume":"39","year":"2009","journal-title":"European Journal of Clinical Investigation"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nrc3648","article-title":"Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity","volume":"14","year":"2014","journal-title":"Nature Reviews Cancer"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1210\/jc.2016-3829","article-title":"Characteristics of pediatric vs adult pheochromocytomas and paragangliomas","volume":"102","year":"2017","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref741","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":"European Journal of Endocrinology"},{"key":"ref501","article-title":"Hereditary paraganglioma-pheochromocytoma syndromes.","year":"1993","journal-title":"Gene Reviews(R)."},{"key":"ref261","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10549-015-3429-9","article-title":"HBOC multi-gene panel testing: comparison of two sequencing centers","volume":"152","year":"2015","journal-title":"Breast Cancer Research and Treatment"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1210\/jc.2015-3856","article-title":"Epigenetic mutation of the succinate dehydrogenase C promoter in a patient with two paragangliomas","volume":"101","year":"2016","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2008.12.051","article-title":"Neurofibromatosis type 1.","volume":"61","year":"2009","journal-title":"Journal of the American Academy of Dermatology"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1210\/jc.2006-0780","article-title":"Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma","volume":"91","year":"2006","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref471","article-title":"Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.","volume":"107","year":"2015","journal-title":"Journal of the National Cancer Institute"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/ejhg.2014.145","article-title":"Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?","volume":"23","year":"2015","journal-title":"European Journal of Human Genetics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000084685","article-title":"Hereditary paraganglioma\/pheochromocytoma and inherited succinate dehydrogenase deficiency","volume":"63","year":"2005","journal-title":"Hormone Research"},{"key":"ref101","first-page":"17","article-title":"Long-term prognosis of patients with pediatric pheochromocytoma.","volume":"21","year":"2014","journal-title":"Endocrine-Related Cancer"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.jmoldx.2017.04.009","article-title":"PheoSeq: a targeted next-generation sequencing assay for pheochromocytoma and paraganglioma diagnostics","volume":"19","year":"2017","journal-title":"Journal of Molecular Diagnostics"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jmg.32.9.706","article-title":"Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene","volume":"32","year":"1995","journal-title":"Journal of Medical Genetics"},{"key":"ref381","first-page":"138573","article-title":"Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis","volume":"2015","year":"2015","journal-title":"International Journal of Endocrinology"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1136\/jmg.2008.059329","article-title":"Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?","volume":"45","year":"2008","journal-title":"Journal of Medical Genetics"},{"key":"ref751","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1210\/jc.2006-0780","article-title":"Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma","volume":"91","year":"2006","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1373\/clinchem.2010.153320","article-title":"Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma","volume":"57","year":"2011","journal-title":"Clinical Chemistry"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nrc3648","article-title":"Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity","volume":"14","year":"2014","journal-title":"Nature Reviews Cancer"},{"key":"ref731","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jmg.32.9.706","article-title":"Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene","volume":"32","year":"1995","journal-title":"Journal of Medical Genetics"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.critrevonc.2017.05.005","article-title":"Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas","volume":"116","year":"2017","journal-title":"Critical Reviews in Oncology\/Hematology"},{"key":"ref801","first-page":"138573","article-title":"Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis","volume":"2015","year":"2015","journal-title":"International Journal of Endocrinology"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng.533","article-title":"Germline mutations in TMEM127 confer susceptibility to pheochromocytoma","volume":"42","year":"2010","journal-title":"Nature Genetics"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1136\/jmg.2008.059329","article-title":"Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?","volume":"45","year":"2008","journal-title":"Journal of Medical Genetics"},{"key":"ref631","doi-asserted-by":"crossref","first-page":"5397","DOI":"10.1093\/hmg\/dds374","article-title":"Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.185","article-title":"Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas","volume":"13","year":"2017","journal-title":"Nature Reviews Endocrinology"},{"key":"ref671","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s12020-011-9471-4","article-title":"Is there still a place for adrenal venous sampling in the diagnostic localization of pheochromocytoma?","volume":"40","year":"2011","journal-title":"Endocrine"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/humu.9245","article-title":"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1","volume":"23","year":"2004","journal-title":"Human Mutation"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1093\/hmg\/11.20.2347","article-title":"The pressure rises: update on the genetics of phaeochromocytoma","volume":"11","year":"2002","journal-title":"Human Molecular Genetics"},{"key":"ref641","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1530\/ERC-13-0046","article-title":"WelanderJSoderkvistPGimmO The gene a frequent mutational target in sporadic pheochromocytomas and beyond - Related https org","journal-title":"Endocrine Cancer"},{"key":"ref711","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.jmoldx.2017.04.009","article-title":"PheoSeq: a targeted next-generation sequencing assay for pheochromocytoma and paraganglioma diagnostics","volume":"19","year":"2017","journal-title":"Journal of Molecular Diagnostics"},{"key":"ref221","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1530\/ERC-13-0046","article-title":"WelanderJSoderkvistPGimmO The gene a frequent mutational target in sporadic pheochromocytomas and beyond - Related https org","journal-title":"Endocrine Cancer"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s12020-011-9471-4","article-title":"Is there still a place for adrenal venous sampling in the diagnostic localization of pheochromocytoma?","volume":"40","year":"2011","journal-title":"Endocrine"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000084685","article-title":"Hereditary paraganglioma\/pheochromocytoma and inherited succinate dehydrogenase deficiency","volume":"63","year":"2005","journal-title":"Hormone Research"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/ejhg.2014.145","article-title":"Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?","volume":"23","year":"2015","journal-title":"European Journal of Human Genetics"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"e1006248","DOI":"10.1371\/journal.pgen.1006248","article-title":"Identification and functional testing of ERCC2 mutations in a multi-national cohort of patients with familial breast- and ovarian cancer","volume":"12","year":"2016","journal-title":"PLOS Genetics"},{"key":"ref811","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1530\/EJE-16-0233","article-title":"Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10549-015-3429-9","article-title":"HBOC multi-gene panel testing: comparison of two sequencing centers","volume":"152","year":"2015","journal-title":"Breast Cancer Research and Treatment"},{"key":"ref821","first-page":"141","article-title":"Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.","volume":"86","year":"2016","journal-title":"Clinical Endocrinology"},{"key":"ref31","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":"43","year":"2011","journal-title":"Nature Genetics"},{"key":"ref421","doi-asserted-by":"publisher","first-page":"201118","DOI":"10.1530\/ERC-11-0170","article-title":"WelanderJSoderkvistPGimmO and clinical characteristics of hereditary pheochromocytomas and paragangliomas - Related https org","journal-title":"Genetics Endocrine Cancer"},{"key":"ref521","first-page":"17","article-title":"Long-term prognosis of patients with pediatric pheochromocytoma.","volume":"21","year":"2014","journal-title":"Endocrine-Related Cancer"},{"key":"ref651","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1530\/EJE-16-0126","article-title":"Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1210\/jc.2006-2833","article-title":"Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1","volume":"92","year":"2007","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref321","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":"European Journal of Endocrinology"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"2685","DOI":"10.1056\/NEJMoa0806277","article-title":"PHD2 mutation and congenital erythrocytosis with paraganglioma","volume":"359","year":"2008","journal-title":"New England Journal of Medicine"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1210\/jc.2016-3829","article-title":"Characteristics of pediatric vs adult pheochromocytomas and paragangliomas","volume":"102","year":"2017","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref831","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.critrevonc.2017.05.005","article-title":"Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas","volume":"116","year":"2017","journal-title":"Critical Reviews in Oncology\/Hematology"},{"key":"ref771","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1111\/j.1365-2362.2009.02174.x","article-title":"Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.","volume":"39","year":"2009","journal-title":"European Journal of Clinical Investigation"},{"key":"ref71","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":"23","year":"2014","journal-title":"Human Molecular Genetics"},{"key":"ref761","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1111\/cen.13265","article-title":"Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1","volume":"86","year":"2017","journal-title":"Clinical Endocrinology"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"2685","DOI":"10.1056\/NEJMoa0806277","article-title":"PHD2 mutation and congenital erythrocytosis with paraganglioma","volume":"359","year":"2008","journal-title":"New England Journal of Medicine"},{"key":"ref01","doi-asserted-by":"publisher","first-page":"201118","DOI":"10.1530\/ERC-11-0170","article-title":"WelanderJSoderkvistPGimmO and clinical characteristics of hereditary pheochromocytomas and paragangliomas - Related https org","journal-title":"Genetics Endocrine Cancer"},{"key":"ref81","article-title":"Hereditary paraganglioma-pheochromocytoma syndromes.","year":"1993","journal-title":"Gene Reviews(R)."},{"key":"ref161","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1210\/jc.2006-2833","article-title":"Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1","volume":"92","year":"2007","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2008.12.051","article-title":"Neurofibromatosis type 1.","volume":"61","year":"2009","journal-title":"Journal of the American Academy of Dermatology"},{"key":"ref791","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1210\/jc.2015-3856","article-title":"Epigenetic mutation of the succinate dehydrogenase C promoter in a patient with two paragangliomas","volume":"101","year":"2016","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1530\/EJE-16-0233","article-title":"Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref181","first-page":"81","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1093\/hmg\/11.20.2347","article-title":"The pressure rises: update on the genetics of phaeochromocytoma","volume":"11","year":"2002","journal-title":"Human Molecular Genetics"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng.533","article-title":"Germline mutations in TMEM127 confer susceptibility to pheochromocytoma","volume":"42","year":"2010","journal-title":"Nature Genetics"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1111\/cen.13265","article-title":"Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1","volume":"86","year":"2017","journal-title":"Clinical Endocrinology"},{"key":"ref661","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1373\/clinchem.2010.153320","article-title":"Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma","volume":"57","year":"2011","journal-title":"Clinical Chemistry"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s13053-016-0051-8","article-title":"An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis","volume":"14","year":"2016","journal-title":"Hereditary Cancer in Clinical Practice"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/178\/2\/EJE-17-0714.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1530\/EJE-17-0714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:11:12Z","timestamp":1676391072000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/178\/2\/K1\/6655284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":82,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-17-0714","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}