The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

作者: CA Stratakis , MA Tichomirowa , S Boikos , MF Azevedo , M Lodish

DOI: 10.1111/J.1399-0004.2010.01406.X

关键词:

摘要: The prevalence of germline mutations in MEN1, AIP, PRKAR1A, CDKN1B and CDKN2CI is unknown among pediatric patients with pituitary adenomas (PA). In this study, we screened children PA for these genes; somatic GNAS were also studied a limited number growth hormone (GH) or prolactin (PRL)-secreting PA. We 74 6 either isolated Cushing disease (CD) GH- PRL-secreting PA, respectively. four CD, GH/PRL-secreting tumors who had some syndromic features. There was one AIP mutation (p.Lys103Arg) CD patients. Two MEN1 that occurred recurrent difficult-to-treat found CD. three (p.Gln307ProfsX104, p.Pro114fsX, p.Lys241X) additional patient positive family history. no the CDKN1B, CDKN2C genes. Thus, gene are frequent but significantly rarer CD; PRKAR1A not present outside Carney complex.

参考文章(41)
Adrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, Marie-Lise Jaffrain-Rea, Luciana A Naves, Mirtha A Guitelman, Arnaud Murat, Philippe Emy, Anne-Paule Gimenez-Roqueplo, Guido Tamburrano, Gérald Raverot, Anne Barlier, Wouter De Herder, Alfred Penfornis, Enrica Ciccarelli, Bruno Estour, Pierre Lecomte, Blandine Gatta, Olivier Chabre, María Isabel Sabaté, Xavier Bertagna, Natalia Garcia Basavilbaso, Graciela Stalldecker, Annamaria Colao, Piero Ferolla, Jean-Louis Wémeau, Philippe Caron, Jean-Louis Sadoul, Adriana Oneto, Françoise Archambeaud, Alain Calender, Olga Sinilnikova, Carmen Fajardo Montañana, Francesco Cavagnini, Vaclav Hana, Angela Solano, Dreanina Delettieres, Douglas C Luccio-Camelo, Armando Basso, Vincent Rohmer, Thierry Brue, Vincent Bours, Bin Tean Teh, Albert Beckers, None, Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families The Journal of Clinical Endocrinology and Metabolism. ,vol. 92, pp. 1891- 1896 ,(2007) , 10.1210/JC.2006-2513
Shereen Ezzat, Sylvia L. Asa, William T. Couldwell, Charles E. Barr, William E. Dodge, Mary Lee Vance, Ian E. McCutcheon, The prevalence of pituitary adenomas: a systematic review. Cancer. ,vol. 101, pp. 613- 619 ,(2004) , 10.1002/CNCR.20412
Gregory A. Kaltsas, Blerina Kola, Ninetta Borboli, Damian G. Morris, Maria Gueorguiev, Frankie M. Swords, Sándor Czirják, Lawrence S. Kirschner, Constantine A. Stratakis, Márta Korbonits, Ashley B. Grossman, Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours. Clinical Endocrinology. ,vol. 57, pp. 443- 448 ,(2002) , 10.1046/J.1365-2265.2002.01643.X
Marianthi Georgitsi, Anniina Raitila, Auli Karhu, Karoliina Tuppurainen, Markus J Mäkinen, Outi Vierimaa, Ralf Paschke, Wolfgang Saeger, Rob B van der Luijt, Timo Sane, Mercedes Robledo, Ernesto De Menis, Robert J Weil, Anna Wasik, Grzegorz Zielinski, Olga Lucewicz, Jan Lubinski, Virpi Launonen, Pia Vahteristo, Lauri A Aaltonen, Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 104, pp. 4101- 4105 ,(2007) , 10.1073/PNAS.0700004104
Marianthi Georgitsi, Anniina Raitila, Auli Karhu, Rob B. van der Luijt, Cora M. Aalfs, Timo Sane, Outi Vierimaa, Markus J. Mäkinen, Karoliina Tuppurainen, Ralph Paschke, Oliver Gimm, Christian A. Koch, Sadi Gündogdu, Anneke Lucassen, Marc Tischkowitz, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Ernesto De Menis, Virpi Launonen, Pia Vahteristo, Lauri A. Aaltonen, Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. The Journal of Clinical Endocrinology and Metabolism. ,vol. 92, pp. 3321- 3325 ,(2007) , 10.1210/JC.2006-2843
Sunita K. Agarwal, Carmen M. Mateo, Stephen J. Marx, Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States The Journal of Clinical Endocrinology and Metabolism. ,vol. 94, pp. 1826- 1834 ,(2009) , 10.1210/JC.2008-2083
Atsushi Ozawa, Sunita K. Agarwal, Carmen M. Mateo, A. Lee Burns, Terri S. Rice, Patricia A. Kennedy, Caitlin M. Quigley, William F. Simonds, Lee S. Weinstein, Settara C. Chandrasekharappa, Francis S. Collins, Allen M. Spiegel, Stephen J. Marx, The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. The Journal of Clinical Endocrinology and Metabolism. ,vol. 92, pp. 1948- 1951 ,(2007) , 10.1210/JC.2006-2563
Marianthi Georgitsi, Ernesto De Menis, Salvatore Cannavò, Markus J. Mäkinen, Karoliina Tuppurainen, Paolo Pauletto, Lorenzo Curtò, Robert J. Weil, Ralf Paschke, Grzegorz Zielinski, Anna Wasik, Jan Lubinski, Pia Vahteristo, Auli Karhu, Lauri A. Aaltonen, Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. Clinical Endocrinology. ,vol. 69, pp. 621- 627 ,(2008) , 10.1111/J.1365-2265.2008.03266.X
L. Drori-Herishanu, A. Horvath, M. Nesterova, Y. Patronas, M. Lodish, E. Bimpaki, N. Patronas, S. Agarwal, R. Salvatori, M. Martari, V. Mericq, C. A. Stratakis, An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein. Hormone and Metabolic Research. ,vol. 41, pp. 630- 634 ,(2009) , 10.1055/S-0029-1216358
Alberto Fernandez, Niki Karavitaki, John A. H. Wass, Prevalence of pituitary adenomas: a community‐based, cross‐sectional study in Banbury (Oxfordshire, UK) Clinical Endocrinology. ,vol. 72, pp. 377- 382 ,(2010) , 10.1111/J.1365-2265.2009.03667.X