{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:39:09Z","timestamp":1779914349445,"version":"3.53.1"},"reference-count":181,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004097","name":"Fondation ARC pour la Recherche sur le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000761","name":"Imperial College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000761","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2026,3]]},"DOI":"10.1016\/j.beem.2026.102099","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T17:28:57Z","timestamp":1773854937000},"page":"102099","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Germline and somatic genetic drivers of adrenocortical tumours"],"prefix":"10.1016","author":[{"given":"Lucas","family":"Bouys","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib1","first-page":"1014","article-title":"Incidentally discovered adrenal tumors: an institutional perspective","volume":"110","author":"Herrera","year":"1991","journal-title":"Surgery"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib2","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.3109\/02841851.2010.516016","article-title":"Adrenal lesion frequency: a prospective, cross-sectional CT study in a defined region, including systematic re-evaluation","volume":"51","author":"Hammarstedt","year":"2010","journal-title":"Acta Radio"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib3","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1007\/s12020-011-9445-6","article-title":"The prevalence of adrenal incidentaloma in routine clinical practice","volume":"40","author":"Davenport","year":"2011","journal-title":"Endocrine"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib4","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/j.surg.2018.07.011","article-title":"Adrenal incidentaloma follow-up is influenced by patient, radiologic, and medical provider factors: a review of 804 cases","volume":"164","author":"Maher","year":"2018","journal-title":"Surgery"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib5","doi-asserted-by":"crossref","DOI":"10.1210\/jendso\/bvab180","article-title":"Adrenal incidentaloma: prevalence and referral patterns from routine practice in a large UK University Teaching Hospital","volume":"6","author":"Hanna","year":"2022","journal-title":"J Endocr Soc"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib6","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.7326\/M22-1619","article-title":"Prevalence and characteristics of adrenal tumors in an unselected screening population: a cross-sectional study","volume":"175","author":"Jing","year":"2022","journal-title":"Ann Intern Med"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib7","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/S2213-8587(20)30314-4","article-title":"Epidemiology of adrenal tumours in Olmsted County, Minnesota, USA: a population-based cohort study","volume":"8","author":"Ebbehoj","year":"2020","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib8","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41392-024-01848-7","article-title":"Tumor initiation and early tumorigenesis: molecular mechanisms and interventional targets","volume":"9","author":"Zhang","year":"2024","journal-title":"Signal Transduct Target Ther"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib9","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/S0962-8924(00)89080-7","article-title":"Theodor Boveri and the origin of malignant tumours","volume":"5","author":"Manchester","year":"1995","journal-title":"Trends Cell Biol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib10","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1073\/pnas.68.4.820","article-title":"Mutation and cancer: statistical study of retinoblastoma","volume":"68","author":"Knudson","year":"1971","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6089","key":"10.1016\/j.beem.2026.102099_bib11","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/323643a0","article-title":"A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma","volume":"323","author":"Friend","year":"1986","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib12","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/s41588-025-02097-2","article-title":"Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1","volume":"57","author":"Oliver","year":"2025","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib13","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/s41568-020-0290-x","article-title":"A compendium of mutational cancer driver genes","volume":"20","author":"Martinez-Jimenez","year":"2020","journal-title":"Nat Rev Cancer"},{"issue":"7793","key":"10.1016\/j.beem.2026.102099_bib14","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/s41586-020-1969-6","article-title":"Consortium ITP-CAoWG. Pan-cancer analysis of whole genomes","volume":"578","year":"2020","journal-title":"Nature"},{"issue":"8012","key":"10.1016\/j.beem.2026.102099_bib15","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1038\/s41586-024-07328-w","article-title":"Transient loss of Polycomb components induces an epigenetic cancer fate","volume":"629","author":"Parreno","year":"2024","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.beem.2026.102099_bib16","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1038\/s41580-021-00398-y","article-title":"The molecular principles of gene regulation by Polycomb repressive complexes","volume":"22","author":"Blackledge","year":"2021","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib17","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/s41580-021-00341-1","article-title":"The roles of Polycomb repressive complexes in mammalian development and cancer","volume":"22","author":"Piunti","year":"2021","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib18","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/s41422-021-00606-6","article-title":"Mechanisms of Polycomb group protein function in cancer","volume":"32","author":"Parreno","year":"2022","journal-title":"Cell Res"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib19","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s12022-022-09710-8","article-title":"Overview of the 2022 WHO classification of adrenal cortical tumors","volume":"33","author":"Mete","year":"2022","journal-title":"Endocr Pathol"},{"issue":"22","key":"10.1016\/j.beem.2026.102099_bib20","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1056\/NEJMe1312792","article-title":"Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia","volume":"369","author":"Lacroix","year":"2013","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib21","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1007\/s12022-024-09824-1","article-title":"Somatic molecular heterogeneity in bilateral macronodular adrenocortical disease (BMAD) differs among the pathological subgroups","volume":"35","author":"Violon","year":"2024","journal-title":"Endocr Pathol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib22","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1210\/endrev\/bnac034","article-title":"Clinical, pathophysiologic, genetic, and therapeutic progress in primary bilateral macronodular adrenal hyperplasia","volume":"44","author":"Bertherat","year":"2023","journal-title":"Endocr Rev"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib23","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s12022-023-09751-7","article-title":"Impact of morphology in the genotype and phenotype correlation of bilateral macronodular adrenocortical disease (BMAD): a series of clinicopathologically well-characterized 35 cases","volume":"34","author":"Violon","year":"2023","journal-title":"Endocr Pathol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib24","first-page":"189","article-title":"Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia","volume":"76","author":"Findlay","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib25","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1530\/EJE-11-0679","article-title":"Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d\u2032etude des Tumeurs Endocrines database","volume":"166","author":"Gatta-Cherifi","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib26","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1097\/DCR.0000000000001008","article-title":"Characteristics of adrenal masses in familial adenomatous polyposis","volume":"61","author":"Shiroky","year":"2018","journal-title":"Dis Colon Rectum"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib27","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.juro.2012.07.139","article-title":"Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer","volume":"189","author":"Shuch","year":"2013","journal-title":"J Urol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib28","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1210\/jc.2009-2321","article-title":"Cushing syndrome in the McCune-Albright syndrome","volume":"95","author":"Brown","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"22","key":"10.1016\/j.beem.2026.102099_bib29","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1056\/NEJMoa1304603","article-title":"ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome","volume":"369","author":"Assie","year":"2013","journal-title":"N Engl J Med"},{"issue":"8","key":"10.1016\/j.beem.2026.102099_bib30","doi-asserted-by":"crossref","first-page":"E1501","DOI":"10.1210\/jc.2013-4237","article-title":"ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia","volume":"99","author":"Alencar","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib31","doi-asserted-by":"crossref","first-page":"E1113","DOI":"10.1210\/jc.2013-4280","article-title":"Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation","volume":"99","author":"Faucz","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib32","doi-asserted-by":"crossref","first-page":"E926","DOI":"10.1210\/jc.2014-4204","article-title":"ARMC5 mutations in a large cohort of primary macronodular adrenal hyperplasia: clinical and functional consequences","volume":"100","author":"Espiard","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib33","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1530\/EJE-21-1032","article-title":"Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients","volume":"187","author":"Bouys","year":"2022","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib34","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1093\/ejendo\/lvad088","article-title":"Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas","volume":"189","author":"Morelli","year":"2023","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2026.102099_bib35","article-title":"A global approach to the long-term follow-up of 17 families with bilateral macronodular adrenal disease","author":"Charchar","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib36","doi-asserted-by":"crossref","first-page":"e2946","DOI":"10.1210\/clinem\/dgae918","article-title":"PDE11A is a phenotype modulator of primary bilateral macronodular adrenal hyperplasia: results of a 334-patient series","volume":"110","author":"Vaduva","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib37","doi-asserted-by":"crossref","first-page":"E119","DOI":"10.1210\/jc.2014-2648","article-title":"Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma","volume":"100","author":"Elbelt","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102099_bib38","article-title":"ARMC5 primary bilateral macronodular adrenal hyperplasia associated with a meningioma: a family report","volume":"2020","author":"Ferreira","year":"2020","journal-title":"Case Rep Endocrinol"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib39","doi-asserted-by":"crossref","first-page":"K7","DOI":"10.1530\/EJE-20-0014","article-title":"Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report","volume":"183","author":"Jojima","year":"2020","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib40","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s11060-024-04680-9","article-title":"Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series","volume":"168","author":"Salame","year":"2024","journal-title":"J Neurooncol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib41","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s12920-025-02112-9","article-title":"ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report","volume":"18","author":"Wang","year":"2025","journal-title":"BMC Med Genom"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib42","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13023-025-03554-1","article-title":"The mutational landscape of ARMC5 in primary bilateral macronodular adrenal hyperplasia: an update","volume":"20","author":"Bouys","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.beem.2026.102099_bib43","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.mce.2017.06.027","article-title":"The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH)","volume":"460","author":"Cavalcante","year":"2018","journal-title":"Mol Cell Endocrinol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib44","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/ERC-19-0502","article-title":"Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation","volume":"27","author":"Cavalcante","year":"2020","journal-title":"Endocr Relat Cancer"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib45","doi-asserted-by":"crossref","first-page":"6343","DOI":"10.1093\/nar\/gkac483","article-title":"ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia","volume":"50","author":"Lao","year":"2022","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib46","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13059-023-03147-w","article-title":"ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans","volume":"25","author":"Luo","year":"2024","journal-title":"Genome Biol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib47","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s12022-025-09898-5","article-title":"The proteome of bilateral macronodular adrenocortical disease (BMAD) shows different profiles correlating with the genetic causes and reveals specific dysregulation of RNA Polymerase II and cholesterol biosynthesis enzymes","volume":"37","author":"Violon","year":"2026","journal-title":"Endocr Pathol"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib48","first-page":"615","article-title":"Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover","volume":"29","author":"Cavalcante","year":"2022","journal-title":"Endocr Relat Cancer"},{"issue":"16","key":"10.1016\/j.beem.2026.102099_bib49","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.151390","article-title":"ARMC5-CUL3 E3 ligase targets full-length SREBF in adrenocortical tumors","volume":"7","author":"Okuno","year":"2022","journal-title":"JCI Insight"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib50","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.gim.2021.09.018","article-title":"KDM1A inactivation causes hereditary food-dependent Cushing syndrome","volume":"24","author":"Vaczlavik","year":"2022","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.beem.2026.102099_bib51","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/S2213-8587(21)00236-9","article-title":"Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study","volume":"9","author":"Chasseloup","year":"2021","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"14","key":"10.1016\/j.beem.2026.102099_bib52","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1056\/NEJM199210013271402","article-title":"Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome","volume":"327","author":"Lacroix","year":"1992","journal-title":"N Engl J Med"},{"issue":"14","key":"10.1016\/j.beem.2026.102099_bib53","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1056\/NEJM199210013271403","article-title":"Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide","volume":"327","author":"Reznik","year":"1992","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib54","doi-asserted-by":"crossref","first-page":"R56","DOI":"10.1093\/ejendo\/lvad026","article-title":"Extensive expertise in endocrinology: glucose-dependent insulinotropic peptide-dependent Cushing's syndrome","volume":"188","author":"Lacroix","year":"2023","journal-title":"Eur J Endocrinol"},{"issue":"12","key":"10.1016\/j.beem.2026.102099_bib55","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1055\/a-2359-8051","article-title":"From the first case reports to KDM1A identification: 35 years of food (GIP)-dependent Cushing's Syndrome","volume":"132","author":"Bouys","year":"2024","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib56","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/ejendo\/lvaf016","article-title":"KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype\/phenotype correlation","volume":"192","author":"Bouys","year":"2025","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib57","doi-asserted-by":"crossref","first-page":"2422","DOI":"10.1210\/clinem\/dgae419","article-title":"Bilateral adrenocortical nodular disease and Cushing's syndrome","volume":"109","author":"Bouys","year":"2024","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib58","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1158\/0008-5472.CAN-17-1900","article-title":"Germline lysine-specific demethylase 1 (LSD1\/KDM1A) mutations confer susceptibility to multiple myeloma","volume":"78","author":"Wei","year":"2018","journal-title":"Cancer Res"},{"key":"10.1016\/j.beem.2026.102099_bib59","doi-asserted-by":"crossref","DOI":"10.1016\/j.canlet.2024.217093","article-title":"Targeting LSD1 in cancer: molecular elucidation and recent advances","volume":"598","author":"Cai","year":"2024","journal-title":"Cancer Lett"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib60","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1097\/00000478-198405000-00002","article-title":"Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome","volume":"8","author":"Shenoy","year":"1984","journal-title":"Am J Surg Pathol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib61","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","article-title":"The complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"64","author":"Carney","year":"1985","journal-title":"Med (Baltim)"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib62","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","author":"Stratakis","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib63","doi-asserted-by":"crossref","first-page":"R99","DOI":"10.1530\/EJE-20-1120","article-title":"Management of endocrine disease: 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"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib64","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0025-6196(12)61843-6","article-title":"Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"61","author":"Carney","year":"1986","journal-title":"Mayo Clin Proc"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib65","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"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib66","doi-asserted-by":"crossref","first-page":"R31","DOI":"10.1172\/JCI10841","article-title":"Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex","volume":"106","author":"Casey","year":"2000","journal-title":"J Clin Invest"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib67","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1210\/jc.2008-2333","article-title":"Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2032-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes","volume":"94","author":"Bertherat","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib68","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgaa002","article-title":"Frequency and incidence of carney complex manifestations: a prospective multicenter study with a three-year follow-up","volume":"105","author":"Espiard","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib69","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1093\/ejendo\/lvae010","article-title":"Carney complex predisposes to breast cancer: prospective study of 50 women","volume":"190","author":"Vaduva","year":"2024","journal-title":"Eur J Endocrinol"},{"issue":"7","key":"10.1016\/j.beem.2026.102099_bib70","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1056\/NEJMc0706182","article-title":"Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia","volume":"358","author":"Horvath","year":"2008","journal-title":"N Engl J Med"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib71","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1056\/NEJMoa1310359","article-title":"Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome","volume":"370","author":"Beuschlein","year":"2014","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib72","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1093\/ejendo\/lvaf255","article-title":"PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease","volume":"193","author":"Vaduva","year":"2025","journal-title":"Eur J Endocrinol"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib73","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1530\/ERC-20-0309","article-title":"PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A","volume":"27","author":"Espiard","year":"2020","journal-title":"Endocr Relat Cancer"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib74","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1056\/NEJMc1309730","article-title":"PRKACB and Carney complex","volume":"370","author":"Forlino","year":"2014","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib75","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1210\/jc.2005-2708","article-title":"A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds","volume":"91","author":"Groussin","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib76","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1210\/jc.2015-4061","article-title":"The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline","volume":"101","author":"Funder","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib77","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/s41574-020-0382-4","article-title":"Pathogenesis and treatment of primary aldosteronism","volume":"16","author":"Zennaro","year":"2020","journal-title":"Nat Rev Endocrinol"},{"issue":"6357","key":"10.1016\/j.beem.2026.102099_bib78","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/355262a0","article-title":"A chimaeric 11 beta-hydroxylase\/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension","volume":"355","author":"Lifton","year":"1992","journal-title":"Nature"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib79","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1093\/ejendo\/lvae041","article-title":"Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline","volume":"190","author":"Mulatero","year":"2024","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib80","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/s41588-018-0053-8","article-title":"A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism","volume":"50","author":"Fernandes-Rosa","year":"2018","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib81","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/s41588-018-0048-5","article-title":"CLCN2 chloride channel mutations in familial hyperaldosteronism type II","volume":"50","author":"Scholl","year":"2018","journal-title":"Nat Genet"},{"issue":"6018","key":"10.1016\/j.beem.2026.102099_bib82","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1126\/science.1198785","article-title":"K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension","volume":"331","author":"Choi","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.beem.2026.102099_bib83","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.06315","article-title":"Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism","volume":"4","author":"Scholl","year":"2015","journal-title":"Elife"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib84","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1038\/ng.2695","article-title":"Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism","volume":"45","author":"Scholl","year":"2013","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib85","doi-asserted-by":"crossref","first-page":"2579","DOI":"10.1016\/j.ejca.2013.02.034","article-title":"Adrenocortical carcinoma: a population-based study on incidence and survival in the Netherlands since 1993","volume":"49","author":"Kerkhofs","year":"2013","journal-title":"Eur J Cancer"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib86","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1530\/EJE-13-0519","article-title":"Adrenocortical carcinoma: clinical outcomes and prognosis of 330 patients at a tertiary care center","volume":"169","author":"Ayala-Ramirez","year":"2013","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib87","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/cncr.24030","article-title":"Limited prognostic value of the 2004 International Union Against Cancer staging classification for adrenocortical carcinoma: proposal for a Revised TNM Classification","volume":"115","author":"Fassnacht","year":"2009","journal-title":"Cancer"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib88","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ejca.2009.12.007","article-title":"The European Network for the Study of Adrenal Tumors staging system is prognostically superior to the international union against cancer-staging system: a North American validation","volume":"46","author":"Lughezzani","year":"2010","journal-title":"Eur J Cancer"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib89","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/ng.2953","article-title":"Integrated genomic characterization of adrenocortical carcinoma","volume":"46","author":"Assie","year":"2014","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib90","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1093\/annonc\/mdv329","article-title":"Prognostic factors in stage III-IV adrenocortical carcinomas (ACC): an European Network for the Study of Adrenal Tumor (ENSAT) study","volume":"26","author":"Libe","year":"2015","journal-title":"Ann Oncol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib91","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.ccell.2016.07.013","article-title":"Comprehensive pan-genomic characterization of adrenocortical carcinoma","volume":"30","author":"Zheng","year":"2016","journal-title":"Cancer Cell"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib92","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1001\/jamaoncol.2019.1558","article-title":"Value of molecular classification for prognostic assessment of adrenocortical carcinoma","volume":"5","author":"Assie","year":"2019","journal-title":"JAMA Oncol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib93","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1530\/EJE-21-0510","article-title":"S-GRAS score for prognostic classification of adrenocortical carcinoma: an international, multicenter ENSAT study","volume":"186","author":"Elhassan","year":"2021","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib94","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-18-0608","article-title":"European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors","volume":"179","author":"Fassnacht","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib95","doi-asserted-by":"crossref","first-page":"747","DOI":"10.7326\/0003-4819-71-4-747","article-title":"Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?","volume":"71","author":"Li","year":"1969","journal-title":"Ann Intern Med"},{"issue":"4985","key":"10.1016\/j.beem.2026.102099_bib96","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1126\/science.1978757","article-title":"Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms","volume":"250","author":"Malkin","year":"1990","journal-title":"Science"},{"issue":"6303","key":"10.1016\/j.beem.2026.102099_bib97","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/348747a0","article-title":"Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome","volume":"348","author":"Srivastava","year":"1990","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib98","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a026062","article-title":"Tumor-suppressor functions of the TP53 pathway","volume":"6","author":"Aubrey","year":"2016","journal-title":"Cold Spring Harb Perspect Med"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib99","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1177\/1947601911413466","article-title":"Li-fraumeni syndrome","volume":"2","author":"Malkin","year":"2011","journal-title":"Genes Cancer"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib100","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1158\/1078-0432.CCR-17-0408","article-title":"Cancer screening recommendations for individuals with Li-Fraumeni Syndrome","volume":"23","author":"Kratz","year":"2017","journal-title":"Clin Cancer Res"},{"issue":"23","key":"10.1016\/j.beem.2026.102099_bib101","doi-asserted-by":"crossref","first-page":"3673","DOI":"10.1002\/cncr.30248","article-title":"Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort","volume":"122","author":"Mai","year":"2016","journal-title":"Cancer"},{"issue":"21","key":"10.1016\/j.beem.2026.102099_bib102","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1200\/JCO.2014.59.5728","article-title":"Revisiting Li-Fraumeni syndrome from TP53 mutation carriers","volume":"33","author":"Bougeard","year":"2015","journal-title":"J Clin Oncol"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib103","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1200\/JCO.2013.52.6863","article-title":"Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study","volume":"33","author":"Wasserman","year":"2015","journal-title":"J Clin Oncol"},{"issue":"20","key":"10.1016\/j.beem.2026.102099_bib104","doi-asserted-by":"crossref","first-page":"2619","DOI":"10.1200\/JCO.2012.46.3711","article-title":"Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors","volume":"31","author":"Custodio","year":"2013","journal-title":"J Clin Oncol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib105","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ecl.2015.02.004","article-title":"The genetics of adrenocortical tumors","volume":"44","author":"Espiard","year":"2015","journal-title":"Endocrinol Metab Clin North Am"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib106","doi-asserted-by":"crossref","first-page":"R131","DOI":"10.1530\/ERC-17-0361","article-title":"Genetics of tumors of the adrenal cortex","volume":"25","author":"Bonnet-Serrano","year":"2018","journal-title":"Endocr Relat Cancer"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib107","doi-asserted-by":"crossref","first-page":"E476","DOI":"10.1210\/jc.2011-1982","article-title":"TP53 germline mutations in adult patients with adrenocortical carcinoma","volume":"97","author":"Herrmann","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib108","doi-asserted-by":"crossref","first-page":"E119","DOI":"10.1210\/jc.2012-2198","article-title":"Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma","volume":"98","author":"Raymond","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102099_bib109","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejca.2024.114088","article-title":"Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma","volume":"205","author":"Scatolini","year":"2024","journal-title":"Eur J Cancer"},{"issue":"12","key":"10.1016\/j.beem.2026.102099_bib110","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2024.111296","article-title":"Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome","volume":"27","author":"Montellier","year":"2024","journal-title":"iScience"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib111","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41436-019-0596-9","article-title":"Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database","volume":"22","author":"Dominguez-Valentin","year":"2020","journal-title":"Genet Med"},{"issue":"24","key":"10.1016\/j.beem.2026.102099_bib112","doi-asserted-by":"crossref","first-page":"3012","DOI":"10.1200\/JCO.2012.48.0988","article-title":"Adrenocortical carcinoma is a lynch syndrome-associated cancer","volume":"31","author":"Raymond","year":"2013","journal-title":"J Clin Oncol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib113","doi-asserted-by":"crossref","DOI":"10.1016\/j.esmoop.2025.106030","article-title":"Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma","volume":"11","author":"Altieri","year":"2026","journal-title":"ESMO Open"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib114","doi-asserted-by":"crossref","DOI":"10.1530\/ERC-25-0389","article-title":"Prevalence and clinical characteristics of Lynch syndrome-associated adrenocortical carcinoma","volume":"33","author":"Sinha","year":"2026","journal-title":"Endocr Relat Cancer"},{"issue":"22","key":"10.1016\/j.beem.2026.102099_bib115","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1001\/jama.2011.743","article-title":"Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome","volume":"305","author":"Bonadona","year":"2011","journal-title":"JAMA"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib116","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1002\/ajmg.a.36080","article-title":"Prevalence of Beckwith-Wiedemann syndrome in North West of Italy","volume":"161A","author":"Mussa","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib117","doi-asserted-by":"crossref","first-page":"2248","DOI":"10.1002\/ajmg.a.37801","article-title":"Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups","volume":"170","author":"Maas","year":"2016","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.beem.2026.102099_bib118","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.jpeds.2016.05.038","article-title":"Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi)genotype specific histotype targeted screening protocol","volume":"176","author":"Mussa","year":"2016","journal-title":"J Pedia"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib119","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1038\/s41416-020-0911-x","article-title":"Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study","volume":"123","author":"Coktu","year":"2020","journal-title":"Br J Cancer"},{"issue":"23","key":"10.1016\/j.beem.2026.102099_bib120","doi-asserted-by":"crossref","DOI":"10.3390\/cancers16233967","article-title":"Molecular and clinical features of adrenocortical tumors in Beckwith-Wiedemann Spectrum","volume":"16","author":"Carli","year":"2024","journal-title":"Cancers"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib121","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2009.070565","article-title":"Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and\/or multiple lung cysts are the presenting feature","volume":"47","author":"Kunogi","year":"2010","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib122","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1111\/cen.12292","article-title":"An oncocytic adrenal tumour in a patient with Birt-Hogg-Dube syndrome","volume":"80","author":"Raymond","year":"2014","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.beem.2026.102099_bib123","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2018-224283","article-title":"Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome","volume":"2018","author":"Ramsingh","year":"2018","journal-title":"BMJ Case Rep"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib124","first-page":"49","article-title":"Birt-Hogg-Dube Syndrome and coexistence with adrenocortical carcinoma","volume":"25","author":"Kalloniati","year":"2021","journal-title":"Hippokratia"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib125","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s12022-023-09748-2","article-title":"FLCN-driven functional adrenal cortical carcinoma with high mitotic tumor grade: extending the endocrine manifestations of Birt-Hogg-Dube Syndrome","volume":"34","author":"Hofstedter","year":"2023","journal-title":"Endocr Pathol"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib126","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1177\/10668969221117246","article-title":"Adrenal cortical carcinoma and additional rare pathologic findings in multi-organs in a Birt-Hogg-Dube Syndrome patient: with an emphasis on the molecular characteristics of adrenal cortical carcinoma","volume":"31","author":"Kim","year":"2023","journal-title":"Int J Surg Pathol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib127","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1210\/jc.2011-2244","article-title":"A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer","volume":"97","author":"Anselmo","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib128","doi-asserted-by":"crossref","first-page":"E202","DOI":"10.1210\/jc.2011-2321","article-title":"Carney complex with adrenal cortical carcinoma","volume":"97","author":"Morin","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib129","first-page":"17","article-title":"Adrenal tumours in patients with pathogenic APC mutations: a retrospective study","volume":"22","author":"Lin","year":"2024","journal-title":"Hered Cancer Clin Pr"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib130","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/BF00220544","article-title":"Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis","volume":"89","author":"Seki","year":"1992","journal-title":"Hum Genet"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib131","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.2214\/ajr.165.6.7484586","article-title":"Adrenal carcinoma in a patient with Gardner's syndrome: imaging findings","volume":"165","author":"Traill","year":"1995","journal-title":"AJR Am J Roentgenol"},{"issue":"21","key":"10.1016\/j.beem.2026.102099_bib132","doi-asserted-by":"crossref","first-page":"5133","DOI":"10.1158\/1078-0432.CCR-10-1497","article-title":"Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers","volume":"16","author":"Gaujoux","year":"2010","journal-title":"Clin Cancer Res"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib133","doi-asserted-by":"crossref","first-page":"e19","DOI":"10.1097\/MPG.0b013e3182952eca","article-title":"Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis","volume":"58","author":"Rauch","year":"2014","journal-title":"J Pedia Gastroenterol Nutr"},{"key":"10.1016\/j.beem.2026.102099_bib134","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2018-226799","article-title":"Incidentally detected adrenocortical carcinoma in familial adenomatous polyposis: an unusual presentation of a hereditary cancer syndrome","volume":"2018","author":"Agarwal","year":"2018","journal-title":"BMJ Case Rep"},{"issue":"6186","key":"10.1016\/j.beem.2026.102099_bib135","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1126\/science.1249480","article-title":"Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome","volume":"344","author":"Cao","year":"2014","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib136","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng.2956","article-title":"Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors","volume":"46","author":"Goh","year":"2014","journal-title":"Nat Genet"},{"issue":"6186","key":"10.1016\/j.beem.2026.102099_bib137","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1126\/science.1252328","article-title":"Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome","volume":"344","author":"Sato","year":"2014","journal-title":"Science"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib138","doi-asserted-by":"crossref","first-page":"E2093","DOI":"10.1210\/jc.2014-2152","article-title":"Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study","volume":"99","author":"Di Dalmazi","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib139","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1530\/EJE-14-1113","article-title":"PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases","volume":"172","author":"Thiel","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2026.102099_bib140","doi-asserted-by":"crossref","first-page":"5680","DOI":"10.1038\/ncomms6680","article-title":"PKA catalytic subunit mutations in adrenocortical Cushing's adenoma impair association with the regulatory subunit","volume":"5","author":"Calebiro","year":"2014","journal-title":"Nat Commun"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib141","doi-asserted-by":"crossref","first-page":"3526","DOI":"10.1210\/jc.2016-1586","article-title":"Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation","volume":"101","author":"Ronchi","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib142","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1210\/er.2017-00189","article-title":"Genetic causes of functional adrenocortical adenomas","volume":"38","author":"Zennaro","year":"2017","journal-title":"Endocr Rev"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib143","doi-asserted-by":"crossref","first-page":"e594","DOI":"10.1210\/clinem\/dgab682","article-title":"Targeted mutational analysis of cortisol-producing adenomas","volume":"107","author":"Rege","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"17","key":"10.1016\/j.beem.2026.102099_bib144","first-page":"5308","article-title":"Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity","volume":"63","author":"Bertherat","year":"2003","journal-title":"Cancer Res"},{"issue":"8","key":"10.1016\/j.beem.2026.102099_bib145","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.98296","article-title":"Activating PRKACB somatic mutation in cortisol-producing adenomas","volume":"3","author":"Espiard","year":"2018","journal-title":"JCI Insight"},{"key":"10.1016\/j.beem.2026.102099_bib146","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2024.105087","article-title":"Steroids-producing nodules: a two-layered adrenocortical nodular structure as a precursor lesion of cortisol-producing adenoma","volume":"103","author":"Fukumoto","year":"2024","journal-title":"EBioMedicine"},{"issue":"17","key":"10.1016\/j.beem.2026.102099_bib147","doi-asserted-by":"crossref","first-page":"7622","DOI":"10.1158\/0008-5472.CAN-05-0593","article-title":"Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors","volume":"65","author":"Tissier","year":"2005","journal-title":"Cancer Res"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib148","doi-asserted-by":"crossref","first-page":"4135","DOI":"10.1210\/jc.2008-0631","article-title":"Wnt\/beta-catenin and 3\u2032,5\u2032-cyclic adenosine 5\u2032-monophosphate\/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors","volume":"93","author":"Gaujoux","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib149","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1111\/j.1365-2265.2007.03033.x","article-title":"Frequent mutations of beta-catenin gene in sporadic secreting adrenocortical adenomas","volume":"68","author":"Tadjine","year":"2008","journal-title":"Clin Endocrinol"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib150","doi-asserted-by":"crossref","first-page":"E419","DOI":"10.1210\/jc.2010-1885","article-title":"Wnt\/beta-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors","volume":"96","author":"Bonnet","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"10.1016\/j.beem.2026.102099_bib151","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgaa616","article-title":"RNA sequencing and somatic mutation status of adrenocortical tumors: novel pathogenetic insights","volume":"105","author":"Di Dalmazi","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib152","doi-asserted-by":"crossref","first-page":"3869","DOI":"10.1210\/jc.2018-01004","article-title":"Targeted molecular characterization of aldosterone-producing adenomas in white americans","volume":"103","author":"Nanba","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib153","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1161\/HYPERTENSIONAHA.118.12070","article-title":"Genetic characteristics of aldosterone-producing adenomas in blacks","volume":"73","author":"Nanba","year":"2019","journal-title":"Hypertension"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib154","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1161\/HYPERTENSIONAHA.119.14177","article-title":"Genetic, cellular, and molecular heterogeneity in adrenals with aldosterone-producing adenoma","volume":"75","author":"De Sousa","year":"2020","journal-title":"Hypertension"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib155","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1038\/s41588-021-00906-y","article-title":"Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause","volume":"53","author":"Zhou","year":"2021","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib156","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1038\/s41588-023-01403-0","article-title":"Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production","volume":"55","author":"Wu","year":"2023","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib157","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/ng.2716","article-title":"Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension","volume":"45","author":"Azizan","year":"2013","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib158","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/ng.2550","article-title":"Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension","volume":"45","author":"Beuschlein","year":"2013","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib159","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1161\/HYPERTENSIONAHA.114.03419","article-title":"Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma","volume":"64","author":"Fernandes-Rosa","year":"2014","journal-title":"Hypertension"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib160","doi-asserted-by":"crossref","first-page":"K37","DOI":"10.1530\/EJE-19-0377","article-title":"A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma","volume":"181","author":"Dutta","year":"2019","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib161","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1161\/HYPERTENSIONAHA.119.14349","article-title":"Somatic CACNA1H mutation as a cause of aldosterone-producing adenoma","volume":"75","author":"Nanba","year":"2020","journal-title":"Hypertension"},{"issue":"11","key":"10.1016\/j.beem.2026.102099_bib162","doi-asserted-by":"crossref","first-page":"e4066","DOI":"10.1210\/clinem\/dgaa595","article-title":"Prevalence of somatic mutations in aldosterone-producing adenomas in Japanese patients","volume":"105","author":"Nanba","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib163","doi-asserted-by":"crossref","DOI":"10.1210\/jendso\/bvaa123","article-title":"Identification of somatic mutations in CLCN2 in aldosterone-producing adenomas","volume":"4","author":"Rege","year":"2020","journal-title":"J Endocr Soc"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib164","doi-asserted-by":"crossref","DOI":"10.20945\/2359-4292-2025-0228","article-title":"Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations","volume":"69","author":"Maeda","year":"2025","journal-title":"Arch Endocrinol Metab"},{"key":"10.1016\/j.beem.2026.102099_bib165","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgag002","article-title":"Somatic drivers in aldosterone-producing adenomas and nodules: insights from a Brazilian cohort of primary aldosteronism","author":"Guimaraes","year":"2026","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.beem.2026.102099_bib166","doi-asserted-by":"crossref","first-page":"3010","DOI":"10.1210\/jc.2016-1700","article-title":"PRKACA somatic mutations are rare findings in aldosterone-producing adenomas","volume":"101","author":"Rhayem","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib167","doi-asserted-by":"crossref","first-page":"49","DOI":"10.4161\/isl.18675","article-title":"Adhesion molecule CADM1 contributes to gap junctional communication among pancreatic islet alpha-cells and prevents their excessive secretion of glucagon","volume":"4","author":"Ito","year":"2012","journal-title":"Islets"},{"issue":"21","key":"10.1016\/j.beem.2026.102099_bib168","doi-asserted-by":"crossref","first-page":"8276","DOI":"10.1158\/0008-5472.CAN-10-2014","article-title":"Transcriptome analysis reveals that p53 and beta-catenin alterations occur in a group of aggressive adrenocortical cancers","volume":"70","author":"Ragazzon","year":"2010","journal-title":"Cancer Res"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib169","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1158\/1078-0432.CCR-10-2006","article-title":"beta-catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma","volume":"17","author":"Gaujoux","year":"2011","journal-title":"Clin Cancer Res"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib170","first-page":"790","article-title":"p53 mutations in human adrenocortical neoplasms: immunohistochemical and molecular studies","volume":"78","author":"Reincke","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib171","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1530\/eje.0.1450207","article-title":"Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors","volume":"145","author":"Barzon","year":"2001","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"10.1016\/j.beem.2026.102099_bib172","doi-asserted-by":"crossref","first-page":"4080","DOI":"10.1210\/jc.2013-2165","article-title":"Molecular screening for a personalized treatment approach in advanced adrenocortical cancer","volume":"98","author":"De Martino","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"10.1016\/j.beem.2026.102099_bib173","doi-asserted-by":"crossref","first-page":"E1284","DOI":"10.1210\/jc.2012-1184","article-title":"SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes","volume":"97","author":"Letouze","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.beem.2026.102099_bib174","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1530\/EJE-13-0778","article-title":"Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas","volume":"170","author":"Ragazzon","year":"2014","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"10.1016\/j.beem.2026.102099_bib175","first-page":"216","article-title":"MEN1 gene analysis in sporadic adrenocortical neoplasms","volume":"84","author":"Heppner","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.beem.2026.102099_bib176","first-page":"1444","article-title":"Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors","volume":"78","author":"Gicquel","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.beem.2026.102099_bib177","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1210\/er.2013-1029","article-title":"Adrenocortical carcinoma","volume":"35","author":"Else","year":"2014","journal-title":"Endocr Rev"},{"issue":"5","key":"10.1016\/j.beem.2026.102099_bib178","doi-asserted-by":"crossref","first-page":"R215","DOI":"10.1530\/EJE-18-0027","article-title":"Management of endocrine disease: adrenocortical carcinoma: differentiating the good from the poor prognosis tumors","volume":"178","author":"Jouinot","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"9","key":"10.1016\/j.beem.2026.102099_bib179","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/s41574-019-0221-7","article-title":"Adrenocortical carcinoma - towards genomics guided clinical care","volume":"15","author":"Crona","year":"2019","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"10.1016\/j.beem.2026.102099_bib180","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1111\/cen.14629","article-title":"The role of molecular profiling in adrenocortical carcinoma","volume":"97","author":"Lippert","year":"2022","journal-title":"Clin Endocrinol"},{"issue":". 2","key":"10.1016\/j.beem.2026.102099_bib181","first-page":"16","article-title":"EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology","volume":"98","author":"Husebye","year":"2025","journal-title":"Horm Res Paediatr"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X26000205?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X26000205?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T04:44:01Z","timestamp":1776141841000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X26000205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":181,"alternative-id":["S1521690X26000205"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2026.102099","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline and somatic genetic drivers of adrenocortical tumours","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.2026.102099","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":"102099"}}