The role of AIP mutations in pituitary adenomas: 10 years on

Zurück zum Zitat A.F. Daly, M. Rixhon, C. Adam, A. Dempegioti, M.A. Tichomirowa, A. Beckers, High prevalence of pituitary adenomas: a cross-sectional study in the province of Liège, Belgium. J. Clin. Endocrinol. Metab. 91, 4769–4775 (2006)CrossRefPubMed A.F. Daly, M. Rixhon, C. Adam, A. Dempegioti, M.A. Tichomirowa, A. Beckers, High prevalence of pituitary adenomas: a cross-sectional study in the province of Liège, Belgium. J. Clin. Endocrinol. Metab. 91, 4769–4775 (2006)CrossRefPubMed

Zurück zum Zitat A.F. Daly, M.A. Tichomirowa, A. Beckers, Genetic, molecular and clinical features of familial isolated pituitary adenomas. Horm. Res. 71, 116–122 (2009)PubMed A.F. Daly, M.A. Tichomirowa, A. Beckers, Genetic, molecular and clinical features of familial isolated pituitary adenomas. Horm. Res. 71, 116–122 (2009)PubMed

Zurück zum Zitat L. Rostomyan, A. Beckers, Screening for genetic causes of growth hormone hypersecretion. Growth Horm. IGF Res. (2016) Published online early on 12 Oct 2016. pii: S1096-6374(16)30062-4. (in press). doi:10.1016/j.ghir.2016.10.004. [Epub ahead of print] L. Rostomyan, A. Beckers, Screening for genetic causes of growth hormone hypersecretion. Growth Horm. IGF Res. (2016) Published online early on 12 Oct 2016. pii: S1096-6374(16)30062-4. (in press). doi:10.​1016/​j.​ghir.​2016.​10.​004. [Epub ahead of print]

Zurück zum Zitat A. Beckers, M.B. Lodish, G. Trivellin, L. Rostomyan, M. Lee, F.R. Faucz, B. Yuan, C.S. Choong, J.-H. Caberg, E. Verrua, L.A. Naves, T.D. Cheetham, J. Young, P.A. Lysy, P. Petrossians, A. Cotterill, N.S. Shah, D. Metzger, E. Castermans, M.R. Ambrosio, C. Villa, N. Strebkova, N. Mazerkina, S. Gaillard, G.B. Barra, L.A. Casulari, S.J. Neggers, R. Salvatori, M.-L. Jaffrain-Rea, M. Zacharin, B.L. Santamaria, S. Zacharieva, E.M. Lim, G. Mantovani, M.C. Zatelli, M.T. Collins, J.-F. Bonneville, M. Quezado, P. Chittiboina, E.H. Oldfield, V. Bours, P. Liu, W.W. De Herder, N. Pellegata, J.R. Lupski, A.F. Daly, C.A. Stratakis, X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr. Relat. Cancer. 22, 353–367 (2015)CrossRefPubMedPubMedCentral A. Beckers, M.B. Lodish, G. Trivellin, L. Rostomyan, M. Lee, F.R. Faucz, B. Yuan, C.S. Choong, J.-H. Caberg, E. Verrua, L.A. Naves, T.D. Cheetham, J. Young, P.A. Lysy, P. Petrossians, A. Cotterill, N.S. Shah, D. Metzger, E. Castermans, M.R. Ambrosio, C. Villa, N. Strebkova, N. Mazerkina, S. Gaillard, G.B. Barra, L.A. Casulari, S.J. Neggers, R. Salvatori, M.-L. Jaffrain-Rea, M. Zacharin, B.L. Santamaria, S. Zacharieva, E.M. Lim, G. Mantovani, M.C. Zatelli, M.T. Collins, J.-F. Bonneville, M. Quezado, P. Chittiboina, E.H. Oldfield, V. Bours, P. Liu, W.W. De Herder, N. Pellegata, J.R. Lupski, A.F. Daly, C.A. Stratakis, X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr. Relat. Cancer. 22, 353–367 (2015)CrossRefPubMedPubMedCentral

Zurück zum Zitat C. Ramírez-Rentería, L.C. Hernández-Ramírez, L. Portocarrero-Ortiz, G. Vargas, V. Melgar, E. Espinosa, A.L. Espinosa-de-Los-Monteros, E. Sosa, B. González, S. Zúñiga, M. Unterländer, J. Burger, K. Stals, A.-M.M. Bussell, S. Ellard, M. Dang, D. Iacovazzo, S. Kapur, P. Gabrovska, S. Radian, F. Roncaroli, M. Korbonits, M. Mercado, AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine 53, 402–411 (2016)CrossRefPubMed C. Ramírez-Rentería, L.C. Hernández-Ramírez, L. Portocarrero-Ortiz, G. Vargas, V. Melgar, E. Espinosa, A.L. Espinosa-de-Los-Monteros, E. Sosa, B. González, S. Zúñiga, M. Unterländer, J. Burger, K. Stals, A.-M.M. Bussell, S. Ellard, M. Dang, D. Iacovazzo, S. Kapur, P. Gabrovska, S. Radian, F. Roncaroli, M. Korbonits, M. Mercado, AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine 53, 402–411 (2016)CrossRefPubMed

Zurück zum Zitat O. Vierimaa, M. Georgitsi, R. Lehtonen, P. Vahteristo, A. Kokko, A. Raitila, K. Tuppurainen, T.M. Ebeling, P.I. Salmela, R. Paschke, S. Gundogdu, E. De Menis, M.J. Makinen, V. Launonen, A. Karhu, L.A. Aaltonen, Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312, 1228–1230 (2006)CrossRefPubMed O. Vierimaa, M. Georgitsi, R. Lehtonen, P. Vahteristo, A. Kokko, A. Raitila, K. Tuppurainen, T.M. Ebeling, P.I. Salmela, R. Paschke, S. Gundogdu, E. De Menis, M.J. Makinen, V. Launonen, A. Karhu, L.A. Aaltonen, Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312, 1228–1230 (2006)CrossRefPubMed

Zurück zum Zitat G. Occhi, M.L. Jaffrain-Rea, G. Trivellin, N. Albiger, F. Ceccato, E. De Menis, M. Angelini, S. Ferasin, A. Beckers, F. Mantero, C. Scaroni, The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect? J. Endocrinol. Invest 33, 800–805 (2010)CrossRefPubMed G. Occhi, M.L. Jaffrain-Rea, G. Trivellin, N. Albiger, F. Ceccato, E. De Menis, M. Angelini, S. Ferasin, A. Beckers, F. Mantero, C. Scaroni, The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect? J. Endocrinol. Invest 33, 800–805 (2010)CrossRefPubMed

Zurück zum Zitat H.S. Chahal, K. Stals, M. Unterlander, D.J. Balding, M.G. Thomas, A.V. Kumar, G.M. Besser, A.B. Atkinson, P.J. Morrison, T.A. Howlett, M.J. Levy, S.M. Orme, S.A. Akker, R.L. Abel, A.B. Grossman, J. Burger, S. Ellard, M. Korbonits, AIP mutation in pituitary adenomas in the 18th century and today. N. Engl. J. Med. 364, 43–50 (2011)CrossRefPubMed H.S. Chahal, K. Stals, M. Unterlander, D.J. Balding, M.G. Thomas, A.V. Kumar, G.M. Besser, A.B. Atkinson, P.J. Morrison, T.A. Howlett, M.J. Levy, S.M. Orme, S.A. Akker, R.L. Abel, A.B. Grossman, J. Burger, S. Ellard, M. Korbonits, AIP mutation in pituitary adenomas in the 18th century and today. N. Engl. J. Med. 364, 43–50 (2011)CrossRefPubMed

Zurück zum Zitat A.F. Daly, A. Beckers, Familial Isolated Pituitary Adenomas (FIPA) and Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene. Endocrinol. Metab. Clin. North Am. 44, 19–25 (2016)CrossRef A.F. Daly, A. Beckers, Familial Isolated Pituitary Adenomas (FIPA) and Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene. Endocrinol. Metab. Clin. North Am. 44, 19–25 (2016)CrossRef

Zurück zum Zitat A.F. Daly, M.A. Tichomirowa, P. Petrossians, E. Heliövaara, M.-L. Jaffrain-Rea, A. Barlier, L.A. Naves, T. Ebeling, A. Karhu, A. Raappana, L. Cazabat, E. De Menis, C.F. Montañana, G. Raverot, R.J. Weil, T. Sane, D. Maiter, S. Neggers, M. Yaneva, A. Tabarin, E. Verrua, E. Eloranta, A. Murat, O. Vierimaa, P.I. Salmela, P. Emy, R.A. Toledo, M.I. Sabaté, C. Villa, M. Popelier, R. Salvatori, J. Jennings, Á.F. Longás, J.I.L. Aizpún, M. Georgitsi, R. Paschke, C. Ronchi, M. Valimaki, C. Saloranta, W. De Herder, R. Cozzi, M. Guitelman, F. Magri, M.S. Lagonigro, G. Halaby, V. Corman, M.-T. Hagelstein, J.-F. Vanbellinghen, G.B. Barra, A.-P. Gimenez-Roqueplo, F.J. Cameron, F. Borson-Chazot, I. Holdaway, S.P.A. Toledo, G.K. Stalla, A. Spada, S. Zacharieva, J. Bertherat, T. Brue, V. Bours, P. Chanson, L.A. Aaltonen, A. Beckers, 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–E383 (2010)CrossRefPubMed A.F. Daly, M.A. Tichomirowa, P. Petrossians, E. Heliövaara, M.-L. Jaffrain-Rea, A. Barlier, L.A. Naves, T. Ebeling, A. Karhu, A. Raappana, L. Cazabat, E. De Menis, C.F. Montañana, G. Raverot, R.J. Weil, T. Sane, D. Maiter, S. Neggers, M. Yaneva, A. Tabarin, E. Verrua, E. Eloranta, A. Murat, O. Vierimaa, P.I. Salmela, P. Emy, R.A. Toledo, M.I. Sabaté, C. Villa, M. Popelier, R. Salvatori, J. Jennings, Á.F. Longás, J.I.L. Aizpún, M. Georgitsi, R. Paschke, C. Ronchi, M. Valimaki, C. Saloranta, W. De Herder, R. Cozzi, M. Guitelman, F. Magri, M.S. Lagonigro, G. Halaby, V. Corman, M.-T. Hagelstein, J.-F. Vanbellinghen, G.B. Barra, A.-P. Gimenez-Roqueplo, F.J. Cameron, F. Borson-Chazot, I. Holdaway, S.P.A. Toledo, G.K. Stalla, A. Spada, S. Zacharieva, J. Bertherat, T. Brue, V. Bours, P. Chanson, L.A. Aaltonen, A. Beckers, 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–E383 (2010)CrossRefPubMed

Zurück zum Zitat M.-L. Jaffrain-Rea, M. Angelini, D. Gargano, M.A. Tichomirowa, A.F. Daly, J.-F. Vanbellinghen, E. D’Innocenzo, A. Barlier, F. Giangaspero, V. Esposito, L. Ventura, A. Arcella, M. Theodoropoulou, L.A. Naves, C. Fajardo, S. Zacharieva, V. Rohmer, T. Brue, A. Gulino, G. Cantore, E. Alesse, A. Beckers, Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr. Relat. Cancer 16, 1029–1043 (2009)CrossRefPubMed M.-L. Jaffrain-Rea, M. Angelini, D. Gargano, M.A. Tichomirowa, A.F. Daly, J.-F. Vanbellinghen, E. D’Innocenzo, A. Barlier, F. Giangaspero, V. Esposito, L. Ventura, A. Arcella, M. Theodoropoulou, L.A. Naves, C. Fajardo, S. Zacharieva, V. Rohmer, T. Brue, A. Gulino, G. Cantore, E. Alesse, A. Beckers, Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr. Relat. Cancer 16, 1029–1043 (2009)CrossRefPubMed

Zurück zum Zitat L. Kasuki Jomori de Pinho, L. Vieira Neto, L.E. Armondi Wildemberg, E.L. Gasparetto, J. Marcondes, B. de Almeida Nunes, C.M. Takiya, M.R. Gadelha, Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53. Neuroendocrinology 94, 39–48 (2011)CrossRefPubMed L. Kasuki Jomori de Pinho, L. Vieira Neto, L.E. Armondi Wildemberg, E.L. Gasparetto, J. Marcondes, B. de Almeida Nunes, C.M. Takiya, M.R. Gadelha, Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53. Neuroendocrinology 94, 39–48 (2011)CrossRefPubMed

Zurück zum Zitat L. Rostomyan, A.F. Daly, P. Petrossians, E. Nachev, A.R. Lila, A.-L. Lecoq, B. Lecumberri, G. Trivellin, R. Salvatori, A.G. Moraitis, I. Holdaway, D.J. Kranenburg-Van Klaveren, M.C. Zatelli, N. Palacios, C. Nozieres, M. Zacharin, T. Ebeling, M. Ojaniemi, L. Rozhinskaya, E. Verrua, M.-L. Jaffrain-Rea, S. Filipponi, D. Gusakova, V. Pronin, J. Bertherat, Z. Belaya, I. Ilovayskaya, M. Sahnoun-Fathallah, C. Sievers, G.K. Stalla, E. Castermans, J.-H. Caberg, E. Sorkina, R.S. Auriemma, S. Mittal, M. Kareva, P.A. Lysy, P. Emy, E. De Menis, C.S. Choong, G. Mantovani, V. Bours, W. De Herder, T. Brue, A. Barlier, S.J.C.M.M. Neggers, S. Zacharieva, P. Chanson, N.S. Shah, C.A. Stratakis, L.A. Naves, A. Beckers, Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr. Relat. Cancer 22, 745–757 (2015)CrossRefPubMed L. Rostomyan, A.F. Daly, P. Petrossians, E. Nachev, A.R. Lila, A.-L. Lecoq, B. Lecumberri, G. Trivellin, R. Salvatori, A.G. Moraitis, I. Holdaway, D.J. Kranenburg-Van Klaveren, M.C. Zatelli, N. Palacios, C. Nozieres, M. Zacharin, T. Ebeling, M. Ojaniemi, L. Rozhinskaya, E. Verrua, M.-L. Jaffrain-Rea, S. Filipponi, D. Gusakova, V. Pronin, J. Bertherat, Z. Belaya, I. Ilovayskaya, M. Sahnoun-Fathallah, C. Sievers, G.K. Stalla, E. Castermans, J.-H. Caberg, E. Sorkina, R.S. Auriemma, S. Mittal, M. Kareva, P.A. Lysy, P. Emy, E. De Menis, C.S. Choong, G. Mantovani, V. Bours, W. De Herder, T. Brue, A. Barlier, S.J.C.M.M. Neggers, S. Zacharieva, P. Chanson, N.S. Shah, C.A. Stratakis, L.A. Naves, A. Beckers, Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr. Relat. Cancer 22, 745–757 (2015)CrossRefPubMed