Asa SL, Mete O, Perry A, Osamura RY (2022) Overview of the 2022 WHO Classification of Pituitary Tumors. Endocr Pathol 33:6–26. https://doi.org/10.1007/s12022-022-09703-7
Article CAS PubMed Google Scholar
Gold EB (1981) Epidemiology of pituitary adenomas. Epidemiol Rev 3:163–183. https://doi.org/10.1093/oxfordjournals.epirev.a036232
Article CAS PubMed Google Scholar
Ezzat S, Asa SL, Couldwell WT, Barr CE, Dodge WE, Vance ML, McCutcheon IE (2004) The prevalence of pituitary adenomas: a systematic review. Cancer 101:613–619. https://doi.org/10.1002/cncr.20412
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 Liege, Belgium. J Clin Endocrinol Metab 91:4769–4775. https://doi.org/10.1210/jc.2006-1668
Article CAS PubMed Google Scholar
Fontana E, Gaillard R (2009) [Epidemiology of pituitary adenoma: results of the first Swiss study]. Rev Med Suisse 5:2172–2174
Fernandez A, Karavitaki N, Wass JAH (2010) Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK). Clin Endocrinol (Oxf) 72:377–382. https://doi.org/10.1111/j.1365-2265.2009.03667.x
Daly AF, Beckers A (2017) Chapter 21 - Genetics of Pituitary Tumor Syndromes. In: Melmed SBT-TP (Fourth E (ed). Academic Press, pp 619–630
Daly AF, Tichomirowa MA, Beckers A (2009) The epidemiology and genetics of pituitary adenomas. Best Pract Res Clin Endocrinol Metab 23:543–554. https://doi.org/10.1016/j.beem.2009.05.008
Article CAS PubMed Google Scholar
Daly AF, Jaffrain-Rea M-L, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G, Borson-Chazot C, Estour B, Ciccarelli E, Brue T, Ferolla P, Emy P, Colao A, De Menis E, Lecomte P, Penfornis F, Delemer B, Bertherat J, Wémeau JL, De Herder W, Archambeaud F, Stevenaert A, Calender A, Murat A, Cavagnini F, Beckers A (2006) Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab 91:3316–3323. https://doi.org/10.1210/jc.2005-2671
Article CAS PubMed Google Scholar
European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305–1315. https://doi.org/10.1016/0092-8674(93)90618-z
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2:37–41. https://doi.org/10.1038/ng0992-37
Article CAS PubMed Google Scholar
Dénes 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’Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira AJ, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, 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:E531-541. https://doi.org/10.1210/jc.2014-3399
Article CAS PubMed Google Scholar
Xekouki P, Stratakis CA (2012) Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? Endocr Relat Cancer 19:C33-40. https://doi.org/10.1530/ERC-12-0118
Article CAS PubMed PubMed Central Google Scholar
Benn DE, Robinson BG, Clifton-Bligh RJ (2015) 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. Endocr Relat Cancer 22:T91-103. https://doi.org/10.1530/ERC-15-0268
Article CAS PubMed PubMed Central Google Scholar
Xekouki P, Brennand A, Whitelaw B, Pacak K, Stratakis CA (2019) The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors. Horm Metab Res Horm Stoffwechselforschung Horm Metab 51:419–436. https://doi.org/10.1055/a-0661-0341
Vasilev V, Daly AF, Zacharieva S, Beckers A (2020) Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas. Horm Metab Res Horm Stoffwechselforschung Horm Metab 52:553–561. https://doi.org/10.1055/a-1143-5930
Srirangam Nadhamuni V, Korbonits M (2020) Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms. Endocr Rev 41:821–846. https://doi.org/10.1210/endrev/bnaa006
Article PubMed Central Google Scholar
Manoharan J, Bollmann C, Kann PH, Di Fazio P, Bartsch DK, Albers MB (2020) Gender Differences in Multiple Endocrine Neoplasia Type 1: Implications for Screening? Visc Med 36:3–9. https://doi.org/10.1159/000505498
Article PubMed PubMed Central Google Scholar
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TML, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312:1228–1230. https://doi.org/10.1126/science.1126100
Article CAS PubMed Google Scholar
Daly AF, Vanbellinghen J-F, Khoo SK, Jaffrain-Rea M-L, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo A-P, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabaté MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P, Wémeau J-L, Caron P, Sadoul J-L, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montañana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A (2007) Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab 92:1891–1896. https://doi.org/10.1210/jc.2006-2513
Article CAS PubMed Google Scholar
Vasilev V, Daly AF, Trivellin G, Stratakis CA, Zacharieva S, Beckers A (2020) HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: The roles of AIP and GPR101 in familial isolated pituitary adenomas (FIPA). Endocr Relat Cancer 27:T77–T86. https://doi.org/10.1530/ERC-20-0015
Article CAS PubMed Google Scholar
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M (2015) Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin Endocrinol Metab 100:E1242-54. https://doi.org/10.1210/jc.2015-1869
Article PubMed PubMed Central Google Scholar
Schöfl C, Honegger J, Droste M, Grussendorf M, Finke R, Plöckinger U, Berg C, Willenberg HS, Lammert A, Klingmüller D, Jaursch-Hancke C, Tönjes A, Schneidewind S, Flitsch J, Bullmann C, Dimopoulou C, Stalla G, Mayr B, Hoeppner W, Schopohl J (2014) Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J Clin Endocrinol Metab 99:E2789-93. https://doi.org/10.1210/jc.2014-2094
Article CAS PubMed Google Scholar
Korbonits M, Storr H, Kumar A V (2012) Familial pituitary adenomas - who should be tested for AIP mutations? Clin Endocrinol (Oxf) 77:351–356. https://doi.org/10.1111/j.1365-2265.2012.04445.x
Lu R, Pu C, Pekmeczi M, Perry A (2022) Immature PIT1-Lineage Pituitary Neuroendocrine Tumor: a 17-Year-Old Male with Pathogenic AIP Mutation. Endocr Pathol 33:414–416. https://doi.org/10.1007/s12022-022-09723-3
Article CAS PubMed Google Scholar
Gonzalez C, Rosas-Hernandez H, Jurado-Manzano B, Ramirez-Lee MA, Salazar-Garcia S, Martinez-Cuevas PP, Velarde-Salcedo AJ, Morales-Loredo H, Espinosa-Tanguma R, Ali SF, Rubio R (2015) The prolactin family hormones regulate vascular tone through NO and prostacyclin production in isolated rat aortic rings. Acta Pharmacol Sin 36:572–586. https://doi.org/10.1038/aps.2014.159
Article CAS PubMed PubMed Central Google Scholar
Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea M-L, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schürmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montañana CF, Hana V, Halaby G, Delemer B, Aizpún JIL, Sonnet E, Longás AF, Hagelstein M-T, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A (2011) High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol 165:509–515. https://doi.org/10.1530/EJE-11-0304
Article CAS PubMed Google Scholar
Hernández-Ramírez LC, Martucci F, Morgan RML, Trivellin G, Tilley D, Ramos-Guajardo N, Iacovazzo D, D’Acquisto F, Prodromou C, Korbonits M (2016) Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. J Clin Endocrinol Metab 101:3144–3154. https://doi.org/10.1210/jc.2016-1307
Article CAS PubMed PubMed Central Google Scholar
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar A V, Ellard S, Grossman AB, Korbonits M (2010) Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat 31:950–960. https://doi.org/10.1002/humu.21292
Article CAS PubMed PubMed Central Google Scholar
Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea M-L, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein M-T, Vanbellinghen J-F, Barra GB, Gimenez-Roqueplo A-P, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SPA, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A (2010) Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab 95:E373-83. https://doi.org/10.1210/jc.2009-2556
Preda V, Korbonits M, Cudlip S, Karavitaki N, Grossman AB (2014) Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort. Eur J Endocrinol 171:659–666. https://doi.org/10.1530/EJE-14-0426
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