{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:43:01Z","timestamp":1787726581340,"version":"build-2784847793"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:00:00Z","timestamp":1765238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:00:00Z","timestamp":1765238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pituitary"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1007\/s11102-025-01616-y","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T15:26:25Z","timestamp":1765293985000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition"],"prefix":"10.1007","volume":"29","author":[{"given":"C\u00e9cilia","family":"Piazzola","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauriane","family":"Le Collen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e9o","family":"Charnay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Decoudier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Albarel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Macagno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Castinetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Delemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Auragen Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,9]]},"reference":[{"key":"1616_CR1","doi-asserted-by":"publisher","first-page":"4769","DOI":"10.1210\/jc.2006-1668)","volume":"91","author":"AF Daly","year":"2006","unstructured":"Daly AF, Rixhon M, Adam C, Dempegioti A, Tichomirowa MA, Beckers A (2006) High prevalence of pituitary adenomas: A cross-sectional study in the Province of Li\u00e8ge, Belgium. J Clin Endocrinol Metab 91:4769\u20134775. https:\/\/doi.org\/10.1210\/jc.2006-1668)","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR2","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1126\/science.1126100)","volume":"312","author":"O Vierimaa","year":"2006","unstructured":"Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TML, Salmela PI, Paschke R, G\u00fcndogdu S, Menis E, De, M\u00e4kinen MJ, Launonen V, Karhu A, Aaltonen LA, G\u00fc S, Menis E, De, M\u00e4kinen MJ, Launonen V, Karhu A, Aaltonen LA (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Sci (New York N Y) 312:1228\u20131230. https:\/\/doi.org\/10.1126\/science.1126100)","journal-title":"Sci (New York N Y)"},{"key":"1616_CR3","doi-asserted-by":"publisher","unstructured":"Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, Alexandre RBde, Manning AD, Levy I, Keil MF, Sierra MdelaL, Stratakis CA (2014) Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371:2363\u20132374. https:\/\/doi.org\/10.1056\/NEJMoa1408028","DOI":"10.1056\/NEJMoa1408028"},{"key":"1616_CR4","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1126\/science.276.5311.404","volume":"276","author":"SC Chandrasekharappa","year":"1997","unstructured":"Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Sci (New York N Y) 276:404\u2013407","journal-title":"Sci (New York N Y)"},{"key":"1616_CR5","doi-asserted-by":"publisher","first-page":"15558","DOI":"10.1073\/PNAS.0603877103","volume":"103","author":"NS Pellegata","year":"2006","unstructured":"Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, H\u00f6fler H, Fend F, Graw J, Atkinson MJ (2006) Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A 103:15558\u201315563. https:\/\/doi.org\/10.1073\/PNAS.0603877103","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1616_CR6","doi-asserted-by":"publisher","first-page":"E531","DOI":"10.1210\/JC.2014-3399","volume":"100","author":"J D\u00e9nes","year":"2015","unstructured":"D\u00e9nes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O\u2019Sullivan B, Korbonits M (2015) Heterogeneous genetic background of the association of pheochromocytoma\/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab 100:E531\u2013E541. https:\/\/doi.org\/10.1210\/JC.2014-3399","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"1616_CR7","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","volume":"26","author":"LS Kirschner","year":"2000","unstructured":"Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA (2000) Mutations of the gene encoding the protein kinase A type I-\u03b1 regulatory subunit in patients with the Carney complex. Nat Genet 26(1):89\u201392. https:\/\/doi.org\/10.1038\/79238","journal-title":"Nat Genet"},{"key":"1616_CR8","doi-asserted-by":"publisher","first-page":"1688","DOI":"10.1056\/nejm199112123252403","volume":"325","author":"LS Weinstein","year":"1991","unstructured":"Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM (1991) Activating mutations of the stimulatory G protein in the McCune\u2013Albright syndrome. N Engl J Med 325:1688\u20131695. https:\/\/doi.org\/10.1056\/nejm199112123252403","journal-title":"N Engl J Med"},{"key":"1616_CR9","doi-asserted-by":"publisher","unstructured":"Broek MFM, van van den, Nesselrooij BPM, Verrijn Stuart AA, van Leeuwaarde RS, Valk GD (2019) Clinical relevance of genetic analysis in patients with pituitary adenomas: A systematic review. Front Endocrinol 10. https:\/\/doi.org\/10.3389\/FENDO.2019.00837)","DOI":"10.3389\/FENDO.2019.00837)"},{"key":"1616_CR10","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1210\/JC.2008-2333","volume":"94","author":"J Bertherat","year":"2009","unstructured":"Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, Ren\u00e9-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA (2009) Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2019-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085\u20132091. https:\/\/doi.org\/10.1210\/JC.2008-2333","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR11","doi-asserted-by":"publisher","DOI":"10.1210\/CLINEM\/DGAE253","volume":"110","author":"C Tatsi","year":"2024","unstructured":"Tatsi C, Pitsava G, Faucz FR, Keil M, Stratakis CA (2024) The spectrum of GH excess in Carney complex and genotype-phenotype correlations. J Clin Endocrinol Metab 110:e694. https:\/\/doi.org\/10.1210\/CLINEM\/DGAE253","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR12","doi-asserted-by":"publisher","DOI":"10.1210\/CLINEM\/DGAA002","author":"S Espiard","year":"2020","unstructured":"Espiard S, Vantyghem MC, Assi\u00e9 G, Cardot-Bauters C, Raverot G, Brucker-Davis F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre O, Houang M, Bottineau M, Stro\u00ebr S, Groussin L, Guignat L, Cabanes L, Feydy A, Bonnet F, North MO, Dupin N, Grabar S, Duboc D, Bertherat J (2020) Frequency and incidence of Carney complex manifestations: a prospective multicenter study with a three-year follow-up. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/CLINEM\/DGAA002","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR13","doi-asserted-by":"publisher","DOI":"10.1016\/J.LANEPE.2024.101183","author":"C Abadie","year":"2025","unstructured":"Abadie C, Abderrahmane A, Abdous O, Abel C, Ackermann O, Acquaviva C, Ader F, Adham S, Adjaoud D, Afenjar A, Aladjidi N, Alary AS, Albarel F, Albert S, Allard L, Allix I, Alunni V, Amado IF, Amouroux C, Andr\u00e9 N, Angelini C, Anheim M, Sanfelliz IA, Aparicio T, Arfeuille C, Arlet JB, Arnaud L, Arnaud P, Arnold G, Ziegler A (2025) PFMG2025-integrating genomic medicine into the national healthcare system in France. The Lancet Regional Health - Europe. https:\/\/doi.org\/10.1016\/J.LANEPE.2024.101183","journal-title":"The Lancet Regional Health - Europe"},{"key":"1616_CR14","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1093\/EJENDO\/LVAD148","volume":"189","author":"A Boukerrouni","year":"2023","unstructured":"Boukerrouni A, Cuny T, Anjou T, Raingeard I, Ferri\u00e8re A, Grunenwald S, Ma\u00efza JC, Marquant E, Sahakian N, Fodil-Cherif S, Salle L, Niccoli P, Randrianaivo H, Sonnet E, Chevalier N, Thuillier P, Vezzosi D, Reynaud R, Dufour H, Brue T, Tabarin A, Delemer B, Kerlan V, Castinetti F, Barlier A, Romanet P (2023) Genetic testing in prolactinomas: a cohort study. Eur J Endocrinol 189:567\u2013574. https:\/\/doi.org\/10.1093\/EJENDO\/LVAD148","journal-title":"Eur J Endocrinol"},{"key":"1616_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"1616_CR16","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/S41431-020-00755-Z)","volume":"29","author":"D Baux","year":"2021","unstructured":"Baux D, Goethem C, Van, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF (2021) MobiDetails: online DNA variants interpretation. Eur J Hum Genetics: EJHG 29:356\u2013360. https:\/\/doi.org\/10.1038\/S41431-020-00755-Z)","journal-title":"Eur J Hum Genetics: EJHG"},{"key":"1616_CR17","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1002\/humu.22965)","volume":"37","author":"D Salgado","year":"2016","unstructured":"Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, L\u00e9vy N, Collod-B\u00e9roud G (2016) B\u00e9roud C. UMD-Predictor: A High-Throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution. Hum Mutat 37:439\u2013446. https:\/\/doi.org\/10.1002\/humu.22965)","journal-title":"Hum Mutat"},{"key":"1616_CR18","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1210\/jc.2018-01170)","volume":"104","author":"P Romanet","year":"2019","unstructured":"Romanet P, Mohamed A, Giraud S, Odou MF, North MO, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A, Borson-Chazot F, B\u00e9roud C, Goudet P (2019) Barlier A. UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1676 patients from the French population. J Clin Endocrinol Metabolism 104:753\u2013764. https:\/\/doi.org\/10.1210\/jc.2018-01170)","journal-title":"J Clin Endocrinol Metabolism"},{"key":"1616_CR19","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/S00401-013-1084-Y\/METRICS)","volume":"126","author":"J Trouillas","year":"2013","unstructured":"Trouillas J, Roy P, Sturm N, Dantony E, Cortet-Rudelli C, Viennet G, Bonneville JF, Assaker R, Auger C, Brue T, Cornelius A, Dufour H, Jouanneau E, Fran\u00e7ois P, Galland F, Mougel F, Chapuis F, Villeneuve L, Maurage CA, Figarella-Branger D (2013) Raverot G. A new prognostic clinicopathological classification of pituitary adenomas: A multicentric case-control study of 410 patients with 8 years post-operative follow-up. Acta Neuropathol 126:123\u2013135. https:\/\/doi.org\/10.1007\/S00401-013-1084-Y\/METRICS)","journal-title":"Acta Neuropathol"},{"key":"1616_CR20","doi-asserted-by":"publisher","first-page":"E663","DOI":"10.1210\/jc.2011-2291","volume":"97","author":"L Cazabat","year":"2012","unstructured":"Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P (2012) Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 97:E663\u2013E670. https:\/\/doi.org\/10.1210\/jc.2011-2291","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR21","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1530\/EJE-15-1044","volume":"174","author":"AL Lecoq","year":"2016","unstructured":"Lecoq AL, Bouligand J, Hage M, Cazabat L, Salenave S, Linglart A, Young J, Guiochon-Mantel A, Chanson P, Kamenicky P (2016) Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas. Eur J Endocrinol 174:523\u2013530. https:\/\/doi.org\/10.1530\/EJE-15-1044","journal-title":"Eur J Endocrinol"},{"key":"1616_CR22","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1089\/GTMB.2018.0133)","volume":"22","author":"FN Tuncer","year":"2018","unstructured":"Tuncer FN, \u00c7ift\u00e7i Do\u01e7an\u015fen S, Serbest E, Tanrlkulu S, Ekici Y, Bilgi\u00e7 B, Yarman S (2018) Screening of AIP gene variations in a cohort of Turkish patients with Young-Onset sporadic Hormone-Secreting pituitary adenomas. Genetic Test Mol Biomarkers 22:702\u2013708. https:\/\/doi.org\/10.1089\/GTMB.2018.0133)","journal-title":"Genetic Test Mol Biomarkers"},{"key":"1616_CR23","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1093\/ejendo\/lvaf044","volume":"192","author":"PB Loughrey","year":"2025","unstructured":"Loughrey PB, Mothojakan NB, Iacovazzo D, Arni A, Aflorei ED, Arnaldi G, Barlier A, Beckers A, Bizzi MF, Chanson P, Dal J, Daly AF, Dang MN, David A, Andrade MdeO, Else T, Elston MS, Evans A, Ferrau F, Fica S, Flanagan D, Gadelha MR, Grossman AB, Kapur S, Khoo B, Kumar AV, Kumar-Sinha C, Lechan RM, Ludman M, Korbonits M (2025) Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis. Eur J Endocrinol 192:385\u2013397. https:\/\/doi.org\/10.1093\/ejendo\/lvaf044","journal-title":"Eur J Endocrinol"},{"key":"1616_CR24","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1530\/EJE-11-0304","volume":"165","author":"MA Tichomirowa","year":"2011","unstructured":"Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Fajardo Montanana C, Hana V, Halaby G, Delemer B, Labarta Aizpun JI, Sonnet E, Ferrandez Longas A, Hagelstein MT, Caron P, Stalla GK, Beckers A (2011) High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol 165:509\u2013515. https:\/\/doi.org\/10.1530\/EJE-11-0304","journal-title":"Eur J Endocrinol"},{"key":"1616_CR25","doi-asserted-by":"publisher","unstructured":"De SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI (2017) Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. Eur J Endocrinol 176:635\u2013644. https:\/\/doi.org\/10.1530\/EJE-16-0944","DOI":"10.1530\/EJE-16-0944"},{"key":"1616_CR26","doi-asserted-by":"publisher","first-page":"E663","DOI":"10.1210\/jc.2011-2291","volume":"97","author":"L Cazabat","year":"2012","unstructured":"Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P (2012) Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 97:E663-70. https:\/\/doi.org\/10.1210\/jc.2011-2291","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR27","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1097\/01.GIM.0000153663.62300.F8","volume":"7","author":"RD Klein","year":"2005","unstructured":"Klein RD, Salih S, Bessoni J, Bale AE (2005) Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics in medicine\u202f: official journal of the American College of Medical Genetics 7:131\u2013138. https:\/\/doi.org\/10.109701.GIM.0000153663.62300.F8","journal-title":"Genetics in medicine : official journal of the American College of Medical Genetics"},{"key":"1616_CR28","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.mce.2006.02.008","volume":"249","author":"AC J\u00e4ger","year":"2006","unstructured":"J\u00e4ger AC, Friis-Hansen L, Hansen v. O, Eskildsen PC, S\u00f8lling K, Knigge U, Hansen CP, Andersen PH, Brixen K, Feldt-Rasmussen U, Kroustrup JP, Mollerup CL, Rehfeld JF, Blichert-Toft M, Nielsen FC (2006) Characteristics of the Danish families with multiple endocrine neoplasia type 1. Mol Cell Endocrinol 249:123\u2013132. https:\/\/doi.org\/10.1016\/j.mce.2006.02.008","journal-title":"Mol Cell Endocrinol"},{"key":"1616_CR29","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-20-1120","volume":"184","author":"L Bouys","year":"2021","unstructured":"Bouys L, Bertherat J (2021) Management of endocrine disease: carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. Eur J Endocrinol 184:R99\u2013R109. https:\/\/doi.org\/10.1530\/EJE-20-1120","journal-title":"Eur J Endocrinol"},{"key":"1616_CR30","doi-asserted-by":"publisher","first-page":"4041","DOI":"10.1210\/JCEM.86.9.7903","volume":"86","author":"CA Stratakis","year":"2001","unstructured":"Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041\u20134046. https:\/\/doi.org\/10.1210\/JCEM.86.9.7903","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR31","unstructured":"Stratakis CA (2023) Carney Complex. GeneReviews\u00ae"},{"key":"1616_CR32","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1002\/GCC.22254","volume":"54","author":"L Wang","year":"2015","unstructured":"Wang L, Zehir A, Sadowska J, Zhou N, Rosenblum M, Busam K, Agaram N, Travis W, Arcila M, Dogan S, Berger MF, Cheng DT, Ladanyi M, Nafa K, Hameed M (2015) Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP-array and next generation sequencing analysis. Genes Chromosomes Cancer 54:463\u2013471. https:\/\/doi.org\/10.1002\/GCC.22254","journal-title":"Genes Chromosomes Cancer"},{"key":"1616_CR33","doi-asserted-by":"publisher","unstructured":"Terry M, Wakeman K, Williams BJ, Miller DM, Sak M, Abdullaev Z, Pacheco MC, Aldape K, Lehman NL Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations. Free Neuropathology 2022 3. (https:\/\/doi.org\/10.17879\/FREENEUROPATHOLOGY-2022-3864)","DOI":"10.17879\/FREENEUROPATHOLOGY-2022-3864"},{"key":"1616_CR34","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/S11102-006-0265-2","volume":"9","author":"SA Boikos","year":"2006","unstructured":"Boikos SA, Stratakis CA (2006) Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. Pituitary 9:203\u2013209. https:\/\/doi.org\/10.1007\/S11102-006-0265-2","journal-title":"Pituitary"},{"key":"1616_CR35","doi-asserted-by":"publisher","first-page":"3860","DOI":"10.1210\/JCEM.85.10.6875","volume":"85","author":"SD Pack","year":"2000","unstructured":"Pack SD, Kirschner LS, Pak E, Zhuang Z, Carney JA, Stratakis CA (2000) Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the \u2018complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas\u2019 (Carney complex). J Clin Endocrinol Metab 85:3860\u20133865. https:\/\/doi.org\/10.1210\/JCEM.85.10.6875","journal-title":"J Clin Endocrinol Metab"},{"key":"1616_CR36","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1007\/S11102-019-00974-8","volume":"22","author":"T Cuny","year":"2019","unstructured":"Cuny T, Mac TT, Romanet P, Dufour H, Morange I, Albarel F, Lagarde A, Castinetti F, Graillon T, North MO, Barlier A, Brue T (2019) Acromegaly in Carney complex. Pituitary 22:456\u2013466. https:\/\/doi.org\/10.1007\/S11102-019-00974-8","journal-title":"Pituitary"},{"key":"1616_CR37","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/J.IJCARD.2004.05.053","volume":"102","author":"T Mabuchi","year":"2005","unstructured":"Mabuchi T, Shimizu M, Ino H, Yamguchi M, Terai H, Fujino N, Nagata M, Sakata K, Inoue M, Yoneda T, Mabuchi H (2005) PRKAR1A gene mutation in patients with cardiac myxoma. Int J Cardiol 102:273\u2013277. https:\/\/doi.org\/10.1016\/J.IJCARD.2004.05.053","journal-title":"Int J Cardiol"},{"key":"1616_CR38","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1253\/CIRCJ.69.994","volume":"69","author":"Y Imai","year":"2005","unstructured":"Imai Y, Taketani T, Maemura K, Takeda N, Harada T, Nojiri T, Kawanami D, Monzen K, Hayashi D, Murakawa Y, Ohno M, Hirata Y, Yamazaki T, Takamoto S, Nagai R (2005) Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy. Circ J 69:994\u2013995. https:\/\/doi.org\/10.1253\/CIRCJ.69.994","journal-title":"Circ J"},{"key":"1616_CR39","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1111\/J.1439-0272.2007.00784.X","volume":"39","author":"P Wieacker","year":"2007","unstructured":"Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Muschke P (2007) Male infertility as a component of Carney complex. Andrologia 39:196\u2013197. https:\/\/doi.org\/10.1111\/J.1439-0272.2007.00784.X","journal-title":"Andrologia"},{"key":"1616_CR40","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1111\/J.1365-2265.2008.03457.X","volume":"70","author":"K Takano","year":"2009","unstructured":"Takano K, Yasufuku-Takano J, Morita K, Mori S, Takei M, Osamura RY, Teramoto A, Fujita T (2009) Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation. Clin Endocrinol 70:769\u2013775. https:\/\/doi.org\/10.1111\/J.1365-2265.2008.03457.X","journal-title":"Clin Endocrinol"},{"key":"1616_CR41","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1055\/S-0031-1287790)","volume":"120","author":"SY Rhee","year":"2012","unstructured":"Rhee SY, Kwon HS, Lee JH, Woo JT, Kim MK, Lim YJ, Rhee BA, Koh SH, Lee S, Lee MH, Kim DY, Chon S, Oh S, Kim SW, Kim JW, Kim YS (2012) Choi YK. A novel PRKAR1A mutation in Korean Carney complex family. Experimental and clinical endocrinology & diabetes: official journal. German Soc Endocrinol [and] German Diabetes Association 120:7\u201313. https:\/\/doi.org\/10.1055\/S-0031-1287790)","journal-title":"German Soc Endocrinol [and] German Diabetes Association"},{"key":"1616_CR42","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-14-0023","author":"S Birla","year":"2014","unstructured":"Birla S, Aggarwal S, Sharma A, Tandon N (2014) Rare association of acromegaly with left atrial myxoma in Carney\u2019s complex due to novel PRKAR1A mutation. Endocrinology, diabetes & metabolism case reports. https:\/\/doi.org\/10.1530\/EDM-14-0023","journal-title":"Endocrinology, diabetes & metabolism case reports"},{"key":"1616_CR43","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0685","volume":"172","author":"T Iwata","year":"2015","unstructured":"Iwata T, Tamanaha T, Koezuka R, Tochiya M, Makino H, Kishimoto I, Mizusawa N, Ono S, Inoshita N, Yamada S, Shimatsu A, Yoshimoto K (2015) Germline deletion and a somatic mutation of the PRKAR1A gene in a carney complex-related pituitary adenoma. Eur J Endocrinol 172:K5\u2013K10. https:\/\/doi.org\/10.1530\/EJE-14-0685","journal-title":"Eur J Endocrinol"},{"key":"1616_CR44","doi-asserted-by":"publisher","first-page":"e142","DOI":"10.1093\/EHJCI\/JEAB052","volume":"22","author":"T Bourgeois","year":"2021","unstructured":"Bourgeois T, Bruel A Van Den, Vandelanotte S, Vergauwen W, Debonnaire P (2021) Multiple cardiac myxomas and acromegaly revealing carney complex. Eur Heart J Cardiovasc Imaging 22:e142. https:\/\/doi.org\/10.1093\/EHJCI\/JEAB052","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"1616_CR45","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1111\/J.1365-2265.2007.03024.X","volume":"68","author":"FP Giraldi","year":"2008","unstructured":"Giraldi FP, Fatti LM, Bertola G, Balza G, Lavezzi E, Pesce S, Scacchi M, Cavagnini F (2008) Carney\u2019s complex with acromegaly as the leading clinical condition. Clin Endocrinol 68:322\u2013324. https:\/\/doi.org\/10.1111\/J.1365-2265.2007.03024.X","journal-title":"Clin Endocrinol"},{"key":"1616_CR46","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1530\/EJE-21-0075","volume":"185","author":"de LaPiscina IM de","year":"2021","unstructured":"LaPiscina IM de de, Najera NP, Rica I, Gaztambide S, Webb SM, Santos A, Moure MD, Fano MP, Hernandez MI, Chueca-Guindelain MJ, Hern\u00e1ndez-Ram\u00edrez LC, Soto A, Vald\u00e9s N, Casta\u00f1o L (2021) Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas. Eur J Endocrinol 185:485\u2013496. https:\/\/doi.org\/10.1530\/EJE-21-0075","journal-title":"Eur J Endocrinol"},{"key":"1616_CR47","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","volume":"100","author":"NT Strande","year":"2017","unstructured":"Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O\u2019Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS (2017) Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. Am J Hum Genet 100:895\u2013906. https:\/\/doi.org\/10.1016\/j.ajhg.2017.04.015","journal-title":"Am J Hum Genet"},{"key":"1616_CR48","doi-asserted-by":"publisher","first-page":"800","DOI":"10.12998\/WJCC.V6.I14.800","volume":"6","author":"S Li","year":"2018","unstructured":"Li S, Duan L, Wang FD, Lu L, Jin ZY (2018) Carney complex: two case reports and review of literature. World J Clin Cases 6:800\u2013806. https:\/\/doi.org\/10.12998\/WJCC.V6.I14.800","journal-title":"World J Clin Cases"},{"key":"1616_CR49","doi-asserted-by":"publisher","unstructured":"Alzahrani AS, Nafisah A, Bin, Alswailem M, Alghamdi B, Alsaihati B, Aljafar H, Baz B, Alhindi H, Moria Y, Butt MI, Alkabbani AG, Alshaikh OM, Alnassar A, Afeef A, Bin, AlQuraa R, Alsuhaibani R, Alhadlaq O, Abothenain F (2024) Altwaijry YA. Germline variants in sporadic pituitary adenomas. J Endocr Soc 8. https:\/\/doi.org\/10.1210\/JENDSO\/BVAE085)","DOI":"10.1210\/JENDSO\/BVAE085)"}],"container-title":["Pituitary"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11102-025-01616-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11102-025-01616-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11102-025-01616-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T17:38:40Z","timestamp":1773682720000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11102-025-01616-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,9]]},"references-count":49,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["1616"],"URL":"https:\/\/doi.org\/10.1007\/s11102-025-01616-y","relation":{},"ISSN":["1386-341X","1573-7403"],"issn-type":[{"value":"1386-341X","type":"print"},{"value":"1573-7403","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,9]]},"assertion":[{"value":"5 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This work was based on data collected during normal medical management and was approved by the local ethics committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics statement"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15"}}