{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T10:23:17Z","timestamp":1787394197034,"version":"build-2736575974"},"reference-count":79,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.beem.2026.102159","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T06:28:58Z","timestamp":1787034538000},"page":"102159","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex"],"prefix":"10.1016","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-9735-6981","authenticated-orcid":false,"given":"Dionysios N.","family":"Vrachnis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-5520","authenticated-orcid":false,"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2026.102159_bib1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur J Human Genet"},{"key":"10.1016\/j.beem.2026.102159_bib2","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1002\/cncr.34896","article-title":"Guidelines for surveillance of patients with von Hippel-Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance","volume":"129","author":"Daniels","year":"2023","journal-title":"Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib3","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/nrc885","article-title":"Molecular basis of the VHL hereditary cancer syndrome","volume":"2","author":"Kaelin","year":"2002","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib4","doi-asserted-by":"crossref","first-page":"2271","DOI":"10.1158\/1078-0432.CCR-24-3525","article-title":"Update on Surveillance in Von Hippel\u2013Lindau Disease","volume":"31","author":"Rednam","year":"2025","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.beem.2026.102159_bib5","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1002\/cncr.34896","article-title":"Guidelines for surveillance of patients with von Hippel-Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance","volume":"129","author":"Daniels","year":"2023","journal-title":"Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib6","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1159\/000369362","article-title":"Management of von Hippel-Lindau disease: An interdisciplinary review","volume":"37","author":"Schmid","year":"2014","journal-title":"Oncol Res Treat"},{"key":"10.1016\/j.beem.2026.102159_bib7","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1148\/rg.2020200025","article-title":"Pancreatic Neuroendocrine Neoplasms: 2020 Update on Pathologic and Imaging Findings and Classification","volume":"40","author":"Khanna","year":"2020","journal-title":"Radiographics"},{"key":"10.1016\/j.beem.2026.102159_bib8","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":"10.1016\/j.beem.2026.102159_bib9","first-page":"514","article-title":"Mutation and cancer: neuroblastoma and pheochromocytoma","volume":"24","author":"Knudson","year":"1972","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2026.102159_bib10","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev.ge.20.120186.001311","article-title":"Genetics of human cancer","volume":"20","author":"Knudson","year":"1986","journal-title":"Annu Rev Genet"},{"key":"10.1016\/j.beem.2026.102159_bib11","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1136\/jmg.28.7.443","article-title":"Von Hippel-Lindau disease: a genetic study","volume":"28","author":"Maher","year":"1991","journal-title":"J Med Genet"},{"key":"10.1016\/j.beem.2026.102159_bib12","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1136\/jmedgenet-2021-108216","article-title":"Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients","volume":"59","author":"Zhang","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.beem.2026.102159_bib13","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1086\/302726","article-title":"Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents","volume":"66","author":"Sgambati","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2026.102159_bib14","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0031-3955(16)38298-0","article-title":"Nontraditional inheritance","volume":"39","author":"Austin","year":"1992","journal-title":"Pediatr Clin North Am"},{"key":"10.1016\/j.beem.2026.102159_bib15","doi-asserted-by":"crossref","first-page":"11661","DOI":"10.1073\/pnas.95.20.11661","article-title":"pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation","volume":"95","author":"Iliopoulos","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.beem.2026.102159_bib16","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1073\/pnas.95.3.993","article-title":"The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal","volume":"95","author":"Pause","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.beem.2026.102159_bib17","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1158\/0008-5472.CAN-05-2560","article-title":"Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis","volume":"66","author":"Kurban","year":"2006","journal-title":"Cancer Res"},{"key":"10.1016\/j.beem.2026.102159_bib18","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1038\/ncb1912","article-title":"VHL loss causes spindle misorientation and chromosome instability","volume":"11","author":"Thoma","year":"2009","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.beem.2026.102159_bib19","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/20459","article-title":"The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis","volume":"399","author":"Maxwell","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.beem.2026.102159_bib20","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1056\/NEJMoa2103425","article-title":"Belzutifan for Renal Cell Carcinoma in von Hippel\u2013Lindau Disease","volume":"385","author":"Jonasch","year":"2021","journal-title":"New Engl J Med"},{"key":"10.1016\/j.beem.2026.102159_bib21","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nrm1366","article-title":"Oxygen sensing by HIF hydroxylases","volume":"5","author":"Schofield","year":"2004","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.beem.2026.102159_bib22","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0959-437X(00)00193-3","article-title":"Activation of the HIF pathway in cancer","volume":"11","author":"Maxwell","year":"2001","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.beem.2026.102159_bib23","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.molmed.2004.07.008","article-title":"The von Hippel-Lindau tumour suppressor: a multi-faceted inhibitor of tumourigenesis","volume":"10","author":"Barry","year":"2004","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.beem.2026.102159_bib24","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nm0603-677","article-title":"Regulation of angiogenesis by hypoxia: role of the HIF system","volume":"9","author":"Pugh","year":"2003","journal-title":"Nat Med"},{"key":"10.1016\/j.beem.2026.102159_bib25","doi-asserted-by":"crossref","first-page":"4991","DOI":"10.1200\/JCO.2004.05.061","article-title":"Role of VHL gene mutation in human cancer","volume":"22","author":"Kim","year":"2004","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.beem.2026.102159_bib26","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","article-title":"von Hippel-Lindau disease","volume":"361","author":"Lonser","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2026.102159_bib27","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/0140-6736(91)91705-Y","article-title":"Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus","volume":"337","author":"Neumann","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2026.102159_bib28","doi-asserted-by":"crossref","first-page":"e1492","DOI":"10.1111\/aos.14843","article-title":"Genotype-phenotype correlation in von Hippel-Lindau disease","volume":"99","author":"Reich","year":"2021","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.beem.2026.102159_bib29","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1111\/cge.13613","article-title":"Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients","volume":"96","author":"Salama","year":"2019","journal-title":"Clin Genet"},{"key":"10.1016\/j.beem.2026.102159_bib30","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/BF00223868","article-title":"Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect","volume":"95","author":"Brauch","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/j.beem.2026.102159_bib31","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1093\/hmg\/10.10.1019","article-title":"von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF","volume":"10","author":"Hoffman","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2026.102159_bib32","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2022.104538","article-title":"von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance","volume":"65","author":"Louise M Binderup","year":"2022","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.beem.2026.102159_bib33","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/00005792-199711000-00001","article-title":"von Hippel-Lindau disease","volume":"76","author":"Maher","year":"1997","journal-title":"Medicine"},{"key":"10.1016\/j.beem.2026.102159_bib34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-198901000-00001","article-title":"von Hippel-Lindau disease affecting 43 members of a single kindred","volume":"68","author":"Lamiell","year":"1989","journal-title":"Medicine"},{"key":"10.1016\/j.beem.2026.102159_bib35","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1002\/(SICI)1097-0142(19991201)86:11+<2478::AID-CNCR4>3.0.CO;2-5","article-title":"Von Hippel-Lindau syndrome. A pleomorphic condition","volume":"86","author":"Friedrich","year":"1999","journal-title":"Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib36","first-page":"139","article-title":"Von Hippel-Lindau disease","volume":"132","author":"Chittiboina","year":"2015"},{"key":"10.1016\/j.beem.2026.102159_bib37","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1001\/archopht.125.2.239","article-title":"Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis","volume":"125","author":"Wong","year":"2007","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.beem.2026.102159_bib38","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.2214\/ajr.159.6.1442389","article-title":"The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients","volume":"159","author":"Choyke","year":"1992","journal-title":"AJR Am J Roentgenol"},{"key":"10.1016\/j.beem.2026.102159_bib39","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1097\/00000478-199412000-00009","article-title":"Aggressive papillary tumor of middle ear\/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease","volume":"18","author":"Gaffey","year":"1994","journal-title":"Am J Surg Pathol"},{"key":"10.1016\/j.beem.2026.102159_bib40","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s12022-017-9484-5","article-title":"Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours","volume":"28","author":"Lam","year":"2017","journal-title":"Endocr Pathol"},{"key":"10.1016\/j.beem.2026.102159_bib41","doi-asserted-by":"crossref","first-page":"R253","DOI":"10.1530\/ERC-11-0170","article-title":"Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas","volume":"18","author":"Welander","year":"2011","journal-title":"Endocr Relat Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib42","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1210\/endrev\/bnab019","article-title":"Personalized management of pheochromocytoma and paraganglioma","volume":"43","author":"N\u00f6lting","year":"2022","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2026.102159_bib43","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","author":"Walther","year":"1999","journal-title":"J Urol"},{"key":"10.1016\/j.beem.2026.102159_bib44","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1210\/endrev\/bnae001","article-title":"Imaging of Pheochromocytomas and Paragangliomas","volume":"45","author":"Timmers","year":"2024","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2026.102159_bib45","doi-asserted-by":"crossref","first-page":"4069","DOI":"10.1210\/jc.2007-1720","article-title":"Preoperative management of the pheochromocytoma patient","volume":"92","author":"Pacak","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102159_bib46","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1056\/NEJMoa2504964","article-title":"Belzutifan for Advanced Pheochromocytoma or Paraganglioma","volume":"393","author":"Jimenez","year":"2025","journal-title":"New Engl J Med"},{"key":"10.1016\/j.beem.2026.102159_bib47","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/cncr.33978","article-title":"Management recommendations for pancreatic manifestations of von Hippel\u2013Lindau disease","volume":"128","author":"Laks","year":"2022","journal-title":"Cancer"},{"key":"10.1016\/j.beem.2026.102159_bib48","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/j.surg.2007.09.012","article-title":"Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs)","volume":"142","author":"Blansfield","year":"2007","journal-title":"Surgery"},{"key":"10.1016\/j.beem.2026.102159_bib49","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/S1470-2045(25)00099-3","article-title":"Belzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study","volume":"26","author":"Srinivasan","year":"2025","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.beem.2026.102159_bib50","article-title":"RAS and beyond: the many faces of the neurofibromatosis type 1 protein","volume":"15","author":"Anastasaki","year":"2022","journal-title":"DMM Dis Models Mech"},{"key":"10.1016\/j.beem.2026.102159_bib51","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2022.101818","article-title":"ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1","volume":"56","author":"Carton","year":"2023","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.beem.2026.102159_bib52","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.2147\/JMDH.S362791","article-title":"Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach","volume":"17","author":"Lalvani","year":"2024","journal-title":"J Multidiscip Healthc"},{"key":"10.1016\/j.beem.2026.102159_bib53","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.beem.2026.102159_bib54","article-title":"Neurofibromatosis type 1 - an update","volume":"52","author":"Moodley","year":"2024","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.beem.2026.102159_bib55","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1177\/0883073817749367","article-title":"Psychosocial Features of Neurofibromatosis Type 1 in Children and Adolescents","volume":"33","author":"Domon-Archambault","year":"2018","journal-title":"J Child Neurol"},{"key":"10.1016\/j.beem.2026.102159_bib56","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/cen.13163","article-title":"Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1","volume":"86","author":"Gruber","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2026.102159_bib57","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1093\/ejendo\/lvaf147","article-title":"Endocrine manifestations in a paediatric cohort of 181 patients with neurofibromatosis type 1","volume":"193","author":"Regala","year":"2025","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2026.102159_bib58","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1634\/theoncologist.2010-0181","article-title":"Neoplasms Associated with Germline and Somatic NF1 Gene Mutations","volume":"17","author":"Patil","year":"2012","journal-title":"Oncologist"},{"key":"10.1016\/j.beem.2026.102159_bib59","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics10090620","article-title":"Somatostatinoma and Neurofibromatosis Type 1-A Case Report and Review of the Literature","volume":"10","author":"Martin","year":"2020","journal-title":"Diagnostics"},{"key":"10.1016\/j.beem.2026.102159_bib60","doi-asserted-by":"crossref","first-page":"64","DOI":"10.4103\/ant.ANT-D-24-00042","article-title":"Recent Advancement of Neurofibromatosis Type 1: A Narrative Review","volume":"34","author":"Huang","year":"2025","journal-title":"Acta Neurol Taiwan"},{"key":"10.1016\/j.beem.2026.102159_bib61","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1056\/NEJMoa1912735","article-title":"Selumetinib in Children with Inoperable Plexiform Neurofibromas","volume":"382","author":"Gross","year":"2020","journal-title":"New Engl J Med"},{"key":"10.1016\/j.beem.2026.102159_bib62","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1093\/neuonc\/noaf065","article-title":"A phase 2 PBTC study of selumetinib for recurrent\/progressive pediatric low-grade glioma: Strata 2, 5, and 6 with long-term outcomes on strata 1, 3, and 4","volume":"27","author":"Fangusaro","year":"2025","journal-title":"Neuro Oncol"},{"key":"10.1016\/j.beem.2026.102159_bib63","doi-asserted-by":"crossref","DOI":"10.1200\/JCO.2024.42.16_suppl.3016","article-title":"ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children with Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma","author":"Moertel","year":"2024","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.beem.2026.102159_bib64","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s41572-026-00688-9","article-title":"Tuberous sclerosis complex","volume":"12","author":"Winden","year":"2026","journal-title":"Nat Rev Dis Prim"},{"key":"10.1016\/j.beem.2026.102159_bib65","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-021-01917-y","article-title":"Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)","volume":"16","author":"Sauter","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.beem.2026.102159_bib66","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1586\/era.11.93","article-title":"Everolimus: An mTOR inhibitor for the treatment of tuberous sclerosis","volume":"11","author":"Franz","year":"2011","journal-title":"Expert Rev Anticancer Ther"},{"key":"10.1016\/j.beem.2026.102159_bib67","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.pediatrneurol.2021.07.010","article-title":"Beyond the guidelines: how we can improve healthcare for people with tuberous sclerosis complex around the world","volume":"123","author":"Stuart","year":"2021","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.beem.2026.102159_bib68","doi-asserted-by":"crossref","first-page":"7748","DOI":"10.1245\/s10434-023-14157-0","article-title":"Long-term outcomes of tuberous sclerosis complex-associated non-functional pancreatic neuroendocrine tumors: should we be more conservative?","volume":"30","author":"Arya","year":"2023","journal-title":"Ann Surg Oncol"},{"key":"10.1016\/j.beem.2026.102159_bib69","article-title":"Everolimus for Advanced Pancreatic Neuroendocrine Tumors","volume":"364","author":"Yao","year":"2011"},{"key":"10.1016\/j.beem.2026.102159_bib70","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.beem.2010.02.002","article-title":"Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes","volume":"24","author":"Lodish","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102159_bib71","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0140-6736(12)61134-9","article-title":"Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial","volume":"381","author":"Franz","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2026.102159_bib72","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/S0140-6736(12)61767-X","article-title":"Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial","volume":"381","author":"Bissler","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2026.102159_bib73","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","article-title":"Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study","volume":"388","author":"French","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2026.102159_bib74","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1186\/s13023-023-02982-1","article-title":"Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice","volume":"18","author":"Cockerell","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.beem.2026.102159_bib75","first-page":"M85","article-title":"Carney complex: An update","volume":"173","author":"Correa","year":"2015"},{"key":"10.1016\/j.beem.2026.102159_bib76","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2026.102159_bib77","doi-asserted-by":"crossref","first-page":"3924","DOI":"10.1210\/jc.2017-01045","article-title":"Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion","volume":"102","author":"Stelmachowska-Banas","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102159_bib78","doi-asserted-by":"crossref","first-page":"7029","DOI":"10.1074\/jbc.M310804200","article-title":"cAMP-dependent protein kinase regulatory subunit type IIbeta: active site mutations define an isoform-specific network for allosteric signaling by cAMP","volume":"279","author":"Zawadzki","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.beem.2026.102159_bib79","doi-asserted-by":"crossref","first-page":"R99","DOI":"10.1530\/EJE-20-1120","article-title":"Carney complex: Clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene","volume":"184","author":"Bouys","year":"2021","journal-title":"Eur J Endocrinol"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X26000813?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X26000813?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T09:28:14Z","timestamp":1787390894000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X26000813"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":79,"alternative-id":["S1521690X26000813"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2026.102159","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2026.102159","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"102159"}}