Familial pituitary adenomas.

Cell Transformation, Neoplastic/genetics; Female; Humans; Male; Multiple Endocrine Neoplasia Type 1/genetics; Mutation; Neoplastic Syndromes, Hereditary/genetics; Pituitary Neoplasms/genetics

Abstract :

[en] The majority of pituitary adenomas occur sporadically, however, about 5% of all cases occur in a familial setting, of which over half are due to multiple endocrine neoplasia type 1 (MEN-1) and Carney's complex (CNC). Since the late 1990s we have described non-MEN1/CNC familial pituitary tumours that include all tumour phenotypes, a condition named familial isolated pituitary adenomas (FIPA). The clinical characteristics of FIPA vary from those of sporadic pituitary adenomas, as patients with FIPA have a younger age at diagnosis and larger tumours. About 15% of FIPA patients have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), which indicates that FIPA may have a diverse genetic pathophysiology. This review describes the clinical features of familial pituitary adenomas like MEN1, the MEN 1-like syndrome MEN-4, CNC, FIPA, the tumour pathologies found in this setting and the genetic/molecular data that have been recently reported.

Disciplines :

Endocrinology, metabolism & nutrition

Author, co-author :

Tichomirowa, M. A.

Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Language :

English

Title :

Familial pituitary adenomas.

Publication date :

July 2009

Journal title :

Journal of Internal Medicine

ISSN :

0954-6820

eISSN :

1365-2796

Publisher :

Blackwell Publishing, Oxford, United Kingdom

Volume :

266

Issue :

Pages :

5-18

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 21 June 2010

Statistics

Number of views

38 (6 by ULiège)

Number of downloads

3 (3 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

Bibliography

Kovacs, K., Horvath, E., Pathology of pituitary tumors (1987) Endocrinol Metab Clin North Am, 16, pp. 529-51
(2008) Central Brain Tumor Registry of the United States Statistical Report., , Central Brain Tumor Registry of the United States 2007-2008
Daly, A.F., Rixhon, M., Adam, C., Dempegioti, A., Tichomirowa, M.A., Beckers, A., High prevalence of pituitary adenomas: A cross-sectional study in the province of Liege, Belgium (2006) J Clin Endocrinol Metab, 91, pp. 4769-75
Landis, C.A., Masters, S.B., Spada, A., Pace, A.M., Bourne, H.R., Vallar, L., GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours (1989) Nature, 340, pp. 692-6
Hayward, B.E., Barlier, A., Korbonits, M., Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly (2001) J Clin Invest, 107, pp. 31-6
Pei, L., Melmed, S., Scheithauer, B., Kovacs, K., Prager, D., H-ras mutations in human pituitary carcinoma metastases (1994) J Clin Endocrinol Metab, 78, pp. 842-6
Karga, H.J., Alexander, J.M., Hedley-Whyte, E.T., Klibanski, A., Jameson, J.L., Ras mutations in human pituitary tumors (1992) J Clin Endocrinol Metab, 74, pp. 914-9
Wang, Z., Yu, R., Melmed, S., Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division (2001) Mol Endocrinol, 15, pp. 1870-9
Hibberts, N.A., Simpson, D.J., Bicknell, J.E., Analysis of cyclin D1 (CCND1) allelic imbalance and overexpression in sporadic human pituitary tumors (1999) Clin Cancer Res, 5, pp. 2133-9
Zhang, X., Horwitz, G.A., Heaney, A.P., Pituitary tumor transforming gene (PTTG) expression in pituitary adenomas (1999) J Clin Endocrinol Metab, 84, pp. 761-7
Zhang, X., Horwitz, G.A., Prezant, T.R., Structure, expression, and function of human pituitary tumor-transforming gene (PTTG) (1999) Mol Endocrinol, 13, pp. 156-66
Pei, L., Identification of c-myc as a down-stream target for pituitary tumor-transforming gene (2001) J Biol Chem, 276, pp. 8484-91
Zou, H., McGarry, T.J., Bernal, T., Kirschner, M.W., Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis (1999) Science, 285, pp. 418-22
Jacks, T., Fazeli, A., Schmitt, E.M., Bronson, R.T., Goodell, M.A., Weinberg, R.A., Effects of an Rb mutation in the mouse (1992) Nature, 359, pp. 295-300
Hu, N., Gutsmann, A., Herbert, D.C., Bradley, A., Lee, W.H., Lee, E.Y., Heterozygous Rb-1 delta 20/+mice are predisposed to tumors of the pituitary gland with a nearly complete penetrance (1994) Oncogene, 9, pp. 1021-7
Zhu, J., Leon, S.P., Beggs, A.H., Busque, L., Gilliland, D.G., Black, P.M., Human pituitary adenomas show no loss of heterozygosity at the retinoblastoma gene locus (1994) J Clin Endocrinol Metab, 78, pp. 922-7
Pei, L., Melmed, S., Scheithauer, B., Kovacs, K., Benedict, W.F., Prager, D., Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: Evidence for a chromosome 13 tumor suppressor gene other than RB (1995) Cancer Res, 55, pp. 1613-6
Bates, A.S., Farrell, W.E., Bicknell, E.J., Allelic deletion in pituitary adenomas reflects aggressive biological activity and has potential value as a prognostic marker (1997) J Clin Endocrinol Metab, 82, pp. 818-24
Simpson, D.J., Hibberts, N.A., McNicol, A.M., Clayton, R.N., Farrell, W.E., Loss of pRb expression in pituitary adenomas is associated with methylation of the RB1 CpG island (2000) Cancer Res, 60, pp. 1211-6
Harvey, M., Vogel, H., Lee, E.Y.H., Bradley, A., Donehower, L.A., Mice deficient in both p53 and Rb develop tumors primarily of endocrine origin (1995) Cancer Res, 55, pp. 1146-51
Thapar, K., Scheithauer, B., Kovacs, K., Pernicone, P., Laws, E., P53 expression in pituitary adenomas and carcinomas: Correlation with invasiveness and tumor growth fractions (1996) Neurosurgery, 38, pp. 765-70
Buckley, N., Bates, A.S., Broome, J.C., P53 protein accumulates in Cushings adenomas and invasive non- functional adenomas (1995) J Clin Endocrinol Metab, 80, p. 4. , [corrected and republished article originally printed in J Clin Endocrinol Metab 1994
79:1513-6]
Tanizaki, Y., Jin, L., Scheithauer, B., Kovacs, K., Roncaroli, F., Lloyd, R., P53 gene mutations in pituitary carcinomas (2007) Endocr Pathol, 18, pp. 217-22
Farrell, W.E., Simpson, D.J., Bicknell, J.E., Talbot, A.J., Bates, A.S., Clayton, R.N., Chromosome 9p deletions in invasive and noninvasive nonfunctional pituitary adenomas: The deleted region involves markers outside of the MTS1 and MTS2 genes (1997) Cancer Res, 57, pp. 2703-9
Simpson, D.J., Bicknell, J.E., McNicol, A.M., Clayton, R.N., Farrell, W.E., Hypermethylation of the p16/CDKN2A/MTSI gene and loss of protein expression is associated with nonfunctional pituitary adenomas but not somatotrophinomas (1999) Genes Chromosomes Cancer, 24, pp. 328-36
Kirsch, M., Mörz, M., Pinzer, T., Schackert, H., Schackert, G., Frequent loss of the CDKN2C (p18(INK4c)) gene product in pituitary adenomas (2009) Genes Chromosomes Cancer, 48, pp. 143-54
Fero, M.L., Rivkin, M., Tasch, M., A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kip1)-deficient mice (1996) Cell, 85, pp. 733-44
Kyokawa, H., Kineman, R.M., Manova-Todorova, K.O., Enhanced growth of mice lacking the cyclin-dependent kinase inhibitor function of p27Kip1 (1996) Cell, 85, pp. 721-32
Nakayama, K., Ishida, N., Shirane, M., Mice lacking p27Kip1display increased body size, multiple organ hyperplasia, and pituitary tumors (1996) Cell, 85, pp. 707-20
Jin, L., Qian, X., Kulig, E., Transforming growth factor-beta, transforming growth factor-beta receptor II,and p27Kip1 expression in nontumorous and neoplastic human pituitaries (1997) Am J Pathol, 151, pp. 509-19
Bamberger, C.M., Fehn, M., Bamberger, A.M., Reduced expression levels of the cell-cycle inhibitor p27Kip1 in human pituitary adenomas (1999) Eur J Endocrinol, 140, pp. 250-5
Lidhar, K., Korbonits, M., Jordan, S., Low expression of the cell cycle inhibitor p27Kip1 in normal corticotroph cells, corticotroph tumors, and malignant pituitary tumors (1999) J Clin Endocrinol Metab, 84, pp. 3823-30
Pagotto, U., Arzberger, T., Theodoropoulou, M., The expression of the antiproliferative gene ZAC is lost or highly reduced in nonfunctioning pituitary adenomas (2000) Cancer Res, 60, pp. 6794-9
Theodoropoulou, M., Zhang, J., Laupheimer, S., Octreotide, a somatostatin analogue, mediates its antiproliferative action in pituitary tumor cells by altering phosphatidylinositol 3-kinase signaling and inducing Zac1 expression (2006) Cancer Res, 66, pp. 1576-82
Zhang, X., Zhou, Y., Mehta, K.R., A pituitary-derived MEG3 isoform functions as a growth suppressor in tumor cells (2003) J Clin Endocrinol Metab, 88, pp. 5119-26
Zhao, J., Dahle, D., Zhou, Y., Zhang, X., Klibanski, A., Hypermethylation of the promoter region is associated with the loss of MEG3 gene expression in human pituitary tumors (2005) J Clin Endocrinol Metab, 90, pp. 2179-86
Zhang, X., Sun, H., Danila, D.C., Loss of expression of GADD45 gamma, a growth inhibitory gene, in human pituitary adenomas: Implications for tumorigenesis (2002) J Clin Endocrinol Metab, 87, pp. 1262-7
Bahar, A., Bicknell, J.E., Simpson, D.J., Clayton, R.N., Farrell, W.E., Loss of expression of the growth inhibitory gene GADD45gamma, in human pituitary adenomas, is associated with CpG island methylation (2004) Oncogene, 23, pp. 936-44
Elston, M.S., Gill, A.J., Conaglen, J.V., Wnt pathway inhibitors are strongly down-regulated in pituitary tumors (2008) Endocrinology, 149, pp. 1235-42
Ray, D., Melmed, S., Pituitary cytokine and growth factor expression and action (1997) Endocr Rev, 18, pp. 206-28
Ezzat, S., Asa, S.L., Mechanisms of disease: The pathogenesis of pituitary tumors (2006) Nat Clin Pract Endocrinol Metab, 2, pp. 220-30
Paez-Pereda, M., Giacomini, D., Refojo, D., Involvement of bone morphogenetic protein 4 (BMP-4) in pituitary prolactinoma pathogenesis through a Smad/estrogen receptor crosstalk (2003) Proc Natl Acad Sci USA, 100, pp. 1034-9
Theodoropoulou, M., Arzberger, T., Gruebler, Y., Expression of epidermal growth factor receptor in neoplastic pituitary cells: Evidence for a role in corticotropinoma cells (2004) J Endocrinol, 183, pp. 385-94
Scheithauer, B.W., Laws, E.J., Kovacs, K., Horvath, E., Randall, R., Carney, J.A., Pituitary adenomas of the multiple endocrine neoplasia type i syndrome (1987) Semin Diagn Pathol, 4, pp. 205-11
Erdheim, J., Zur normalen und pathologischen Histologie der Glandula thyreoidea, parathyroidea und Hypophysis (1903) Beitr Pathol Anat, 33, pp. 158-65
Wermer, P., Genetic aspects of adenomatosis of endocrine glands (1954) Am J Med, 16, pp. 363-71
Brandi, M.L., Gagel, R.F., Angeli, A., CONSENSUS: Guidelines for diagnosis and therapy of MEN type 1 and type 2 (2001) J Clin Endocrinol Metab, 86, pp. 5658-71
Doherty, G., Olson, J., Frisella, M., Lairmore, T., Wells, S.J., Norton, J., Lethality of multiple endocrine neoplasia type i (1998) World J Surg, 22, pp. 581-6
Larsson, C., Skogseid, B., Oberg, K., Nakamura, Y., Nordenskjold, M., Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma (1988) Nature, 332, pp. 85-7
Chandrasekharappa, S.C., Guru, S.C., Manickam, P., Positional cloning of the gene for multiple endocrine neoplasia-type 1 (1997) Science, 276, pp. 404-7
Marx, S.J., Molecular genetics of multiple endocrine neoplasia types 1 and 2 (2005) Nat Rev Cancer, 5, pp. 367-75
Fromaget, M., Vercherat, C., Zhang, C.X., Zablewska, B., Gaudray, P., Chayvialle, J.-A., Calender, A., Cordier-Bussat, M., Functional characterization of a promoter region in the human MEN1 tumor suppressor gene (2003) Journal of Molecular Biology, 333 (1), pp. 87-102. , DOI 10.1016/j.jmb.2003.08.001
Sayo, Y., Murao, K., Imachi, H., The multiple endocrine neoplasia type 1 gene product, menin, inhibits insulin production in rat insulinoma cells (2002) Endocrinology, 143, pp. 2437-40
La, P., Schnepp, R.W., Petersen, D., Silva, C., Hua, X., Tumor suppressor menin regulates expression of insulin-like growth factor binding protein 2 (2004) Endocrinology, 145, pp. 3443-50
Namihira, H., Sato, M., Murao, K., Cao, W.M., Matsubara, S., Imachi, H., Niimi, M., Ishida, T., The multiple endocrine neoplasia type 1 gene product, menin, inhibits the human prolactin promoter activity (2002) Journal of Molecular Endocrinology, 29 (3), pp. 297-304. , DOI 10.1677/jme.0.0290297
Lemos, M., Thakker, R.V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32
Hai, N., Aoki, N., Shlmatsu, A., Mod, T., Kosugi, S., Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: Analysis of 20 Japanese sporadic cases with MEN1 (2000) Clin Endocrinol (Oxf), 52, pp. 509-18
Burgess, J.R., Nord, B., David, R., Phenotype and phenocopy: The relationship between genotype and clinical phenotype in a single large family with multiple endocrine neoplasia type 1 (MEN 1) (2000) Clin Endocrinol (Oxf), 53, pp. 205-11
Scacheri, P.C., Davis, S., Odom, D.T., Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis (2006) PLoS Genet, 2, p. 51
Agarwal, S.K., Impey, S., McWeeney, S., Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation (2007) Neoplasia, 9, pp. 101-7
Poisson, A., Zablewska, B., Gaudray, P., Menin interacting proteins as clues toward the understanding of multiple endocrine neoplasia type 1 (2003) Cancer Letters, 189 (1), pp. 1-10. , DOI 10.1016/S0304-3835(02)00509-8, PII S0304383502005098
Agarwal, S.K., Novotny, E.A., Crabtree, J.S., Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter (2003) Proc Natl Acad Sci USA, 100, pp. 10770-5
Heppner, C., Bilimoria, K., Agarwal, S.K., The tumor suppressor protein menin interacts with NFk-B proteins and inhibits NFk-B-mediated transactivation (2001) Oncogene, 20, pp. 4917-25
Kaji, H., Canaff, L., Lebrun, J.J., Goltzman, D., Hendy, G.N., Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type + signaling (2001) Proc Natl Acad Sci USA, 98, pp. 3837-42
La, P., Silva, A.C., Hou, Z., Direct binding of DNA by tumor suppressor menin (2004) J Biol Chem, 279, pp. 49045-54
Schnepp, R.W., Hou, Z., Wang, H., Functional Interaction between tumor suppressor menin and activator of S-Phase kinase (2004) Cancer Res, 64, pp. 6791-6
Schnepp, R.W., Mao, H., Sykes, S.M., Menin induces apoptosis in murine embryonic fibroblasts (2004) J Biol Chem, 279, pp. 10685-91
Stewart, C., Parente, F., Piehl, F., Characterization of the mouse Men1 gene and its expression during development (1998) Oncogene, 17, pp. 2485-93
Crabtree, J.S., Scacheri, P.C., Ward, J.M., A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors (2001) Proc Natl Acad Sci USA, 98, pp. 1118-23
Bertolino, P., Tong, W.M., Galendo, D., Wang, Z.Q., Zhang, C.X., Heterozygous Men1 mutant mice develop a range of endocrine tumors mimicking multiple endocrine neoplasia type 1 (2003) Mol Endocrinol, 17, pp. 1880-92
Bertolino, P., Radavanovic, I., Casse, H., Aguzzi, A., Wang, Z., Zhang, C., Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs (2003) Mech Dev, 120, pp. 549-60
Biondi, C.A., Gartside, M.G., Waring, P., Conditional inactivation of the Men1 gene leads to pancreatic and pituitary tumorigenesis but does not affect normal development of these tissues (2004) Mol Cell Biol, 24, pp. 3125-31
Skogseid, B., Eriksson, B., Lundqvist, G., Multiple endocrine neoplasia type 1: A 10-year prospective screening study in four kindreds (1991) J Clin Endocrinol Metab, 73, p. 281
Burgess, J.R., Shepherd, J.J., Parameswaran, V., Hoffman, L., Greenaway, T.M., Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1): Clinical, biochemical, and radiological features of pituitary disease in a large MEN 1 kindred (1996) J Clin Endocrinol Metab, 81, pp. 2642-6
Marx, S., Spiegel, A.M., Skarulis, M.C., Doppman, J.L., Collins, F.S., Liotta, L.A., Multiple endocrine neoplasia type 1: Clinical and genetic topics (1998) Ann Intern Med, 129, pp. 484-94
Verges, B., Boureille, F., Goudet, P., Pituitary disease in MEN type 1 (MEN1): Data from the France-Belgium MEN1 multicenter study (2002) J Clin Endocrinol Metab, 87, pp. 457-65
Beckers, A., Betea, D., Valdes Socin, H., Stevenaert, A., The treatment of sporadic versus MEN1-related pituitary adenomas (2003) Journal of Internal Medicine, 253 (6), pp. 599-605. , DOI 10.1046/j.1365-2796.2003.01164.x
Zhuang, Z., Vortmeyer, A.O., Pack, S., Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas (1997) Cancer Res, 57, pp. 4682-6
Heppner, C., Kester, M.B., Agarwal, S.K., Somatic mutation of the MEN1 gene in parathyroid tumours (1997) Nat Genet, 16, pp. 375-8
Zhuang, Z., Ezzat, S.Z., Vortmeyer, A.O., Mutations of the MEN1 tumor suppressor gene in pituitary tumors (1997) Cancer Res, 57, pp. 5446-51
Poncin, J., Stevenaert, A., Beckers, A., Somatic MEN1 gene mutation does not contribute significantly to sporadic pituitary tumorigenesis (1999) Eur J Endocrinol, 140, pp. 573-6
Schmidt, M., Henke, R., Stangk, A., Analysis of the MEN1 gene in sporadic pituitary adenomas (1999) J Pathol, 188, pp. 168-73
Wenbin, C., Asai, A., Teramoto, A., Sanno, N., Kirino, T., Mutations of the MEN1 tumor suppressor gene in sporadic pituitary tumors (1999) Cancer Lett, 142, pp. 43-7
Prezant, T.R., Levine, J., Melmed, S., Molecular characterization of the Men1 tumor suppressor gene in sporadic pituitary tumors (1998) J Clin Endocrinol Metab, 83, pp. 1388-91
Boggild, M.D., Jenkinson, S., Pistorello, M., Molecular genetic studies of sporadic pituitary tumors (1994) J Clin Endocrinol Metab, 78, pp. 387-92
Asa, S.L., Somers, K., Ezzat, S., The MEN-1 gene is rarely down-regulated in pituitary adenomas (1998) J Clin Endocrinol Metab, 83, pp. 3210-2
Farrell, W.E., Simpson, D.J., Bicknell, J., Magnay, J.L., Kyrodimou, E., Thakker, R.V., Clayton, R.N., Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours (1999) British Journal of Cancer, 80 (1-2), pp. 44-50. , DOI 10.1038/sj.bjc.6690319
Theodoropoulou, M., Cavallari, I., Barzon, L., Differential expression of menin in sporadic pituitary adenomas (2004) Endocr Relat Cancer, 11, pp. 333-44
Poncin, J., Abs, R., Velkeniers, B., Bonduelle, M., Abramowicz, M., Legros, J.-J., Verloes, A., Beckers, A., Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases (1999) Human Mutation, 13 (1), pp. 54-60. , DOI 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO
2-K
Beckers, A., Abs, R., Reyniers, E., Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type i syndrome (1994) J Clin Endocrinol Metab, 79, pp. 1498-502
Farid, N., Buehler, S., Russell, N., Maroun, F., Allerdice, P., Smyth, H., Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors (1980) Am J Med, 69, pp. 874-80
Olufemi, S.E., Green, J., Manickam, P., Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland (1998) Hum Mutat, 11, pp. 264-9
Fritz, A., Walch, A., Piotrowska, K., Recessive transmission of a multiple endocrine neoplasia syndrome in the rat (2002) Cancer Res, 62, pp. 3048-51
Piotrowska, K., Pellegata, N.S., Rosemann, M., Fritz, A., Graw, J., Atkinson, M.J., Mapping of a novel MEN-like syndrome locus to rat chromosome 4 (2004) Mamm Genome, 15, pp. 135-41
Pellegata, N.S., Quintanilla-Martinez, L., Siggelkow, H., Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans (2006) Proc Natl Acad Sci USA, 103, pp. 15558-63
Georgitsi, M., Raitila, A., Karhu, A., Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia (2007) J Clin Endocrinol Metab, 92, pp. 3321-5
Igreja, S.C., Chahal, H.S., Akker, S.A., Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and AIP (aryl hydrocarbon receptor-interacting protein) genes in MEN1 syndrome patients without any detectable MEN1gene mutations (2009) Clin Endocrinol (Oxf), 70, pp. 259-64
Leontiou, C.A., Gueorguiev, M., Van Der Spuy, J., The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas (2008) J Clin Endocrinol Metab, 93, pp. 2390-401
Ozawa, A., Agarwal, S.K., Mateo, C.M., The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27kip1 mutations (2007) J Clin Endocrinol Metab, 92, pp. 1948-51
Agarwal, S.K., Mateo, C.M., Marx, S.J., Rare germline mutations in cyclin-dependent kinase inhibitor genes in MEN1 and related states (2009) J Clin Endocrinol Metab, , doi:
Carney, J.A., Hruska, L., Beauchamp, G., Gordon, H., Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity (1985) Mayo Clin Proc, 61, pp. 165-72
Boikos, S., Stratakis, C.A., Carney complex: The first 20 years (2007) Curr Opin Oncol, 19, pp. 24-9
Stratakis, C.A., Kirschner, L.S., Carney, J.A., Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation (2001) J Clin Endocrinol Metab, 86, pp. 4041-6
Casey, M., Mah, C., Merliss, A.D., Identification of a novel genetic locus for familial cardiac myxomas and Carney complex (1998) Circulation, 98, pp. 2560-6
Stratakis, C.A., Carney, J.A., Lin, J.-P., Papanicolaou, D.A., Karl, M., Kastner, D.L., Pras, E., Chrousos, G.P., Carney complex, a familial multiple neoplasia and lentiginosis syndrome: Analysis of 11 kindreds and linkage to the short arm of chromosome 2 (1996) Journal of Clinical Investigation, 97 (3), pp. 699-705
Veugelers, M., Wilkes, D., Burton, K., Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice (2004) Proc Natl Acad Sci USA, 101, pp. 14222-7
Kirschner, L.S., Sandrini, F., Monbo, J., Lin, J.P., Carney, J.A., Stratakis, C.A., Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex (2000) Hum Mol Genet, 9, pp. 3037-46
Bossis, I., Stratakis, C.A., Minireview: PRKAR1A: normal and abnormal functions (2004) Endocrinology, 145, pp. 5452-8
Griffin, K.J., Kirschner, L.S., Matyakhina, L., A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: Comparison with Carney complex and other PRKAR1A induced lesions (2004) J Med Genet, 41, pp. 923-31
Griffin, K.J., Kirschner, L.S., Matyakhina, L., Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors (2004) Cancer Res, 64, pp. 8811-5
Yin, Z., Williams-Simons, L., Parlow, A.F., Asa, S., Kirschner, L.S., Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumorigenesis (2008) Mol Endocrinol, 22, pp. 380-7
Stergiopoulos, S.G., Stratakis, C.A., Human tumors associated with Carney complex and germline PRKAR1A mutations: A protein kinase A disease (2003) FEBS Letters, 546 (1), pp. 59-64. , DOI 10.1016/S0014-5793(03)00452-6
Pack, S.D., Kirschner, L.S., Pak, E., Zhuang, Z., Carney, J.A., Stratakis, C.A., Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex) (2000) J Clin Endocrinol Metab, 85, pp. 3860-5
Kurtkaya-Yapicier, O., Scheithauer, B.W., Carney, J.A., Pituitary adenoma in Carney complex: An immunohistochemical, ultrastructural, and immunoelectron microscopic study (2002) Ultrastruct Pathol, 26, pp. 345-53
Kaltsas, G.A., Kola, B., Borboli, N., Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours (2002) Clin Endocrinol (Oxf), 57, pp. 443-8
Sandrini, F., Kirschner, L.S., Bei, T., PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex (2002) J Med Genet, 39, p. 78
Sternberg, M., Acromegaly (transl. FRB Atkinson) London (1899) The New Sydenham Society., , [No. 169]
Soares, B.S., Frohman, L.A., Isolated familial somatotropinoma (2004) Pituitary, 7 (2), pp. 95-101. , DOI 10.1007/s11102-005-0-04-0
Frohman, L.A., Isolated familial somatotropinomas: Clinical and genetic considerations (2003) Trans Am Clin Climatol Assoc, 114, pp. 165-77
Teh, B.T., Kytola, S., Farnebo, F., Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism (1998) J Clin Endocrinol Metab, 83, pp. 2621-6
Gadelha, M.R., Une, K.N., Rohde, K., Vaisman, M., Kineman, R.D., Frohman, L.A., Isolated familial somatotropinomas: Establishment of linkage to chromosome 11q13.1-11q13.3 and evidence for a potential second locus at chromosome 2p16-12 (2000) J Clin Endocrinol Metab, 85, pp. 707-14
Vierimaa, O., Georgitsi, M., Lehtonen, R., Pituitary adenoma predisposition caused by germline mutations in the AIP gene (2006) Science, 312, pp. 1228-30
Verloes, A., Stevenaert, A., Teh, B.T., Petrossians, P., Beckers, A., Familial acromegaly: Case report and review of the literature (1999) Pituitary, 1, pp. 273-7
Valdes-Socin, H., Poncin, J., Stevens, V., Stevenaert, A., Beckers, A., Adenomes hypophysaires familiaux isoles non lies avec la mutation somatique NEM-1. Suivi de 27 patients (2000) Ann Endocrinol, 61, p. 301
Valdes-Socin, H., Betea, D., Stevens, V., Poncin, J., Stevenaert, A., Beckers, A., Familial isolated pituitary adenomas not related to the MEN-1 syndrome: A study of 27 patients (2000) 10th Meeting of the Belgian Endocrine Society
Valdes-Socin, H., Jaffrain-Rea, M.L., Tamburrano, G., Familial isolated pituitary tumors : cclinical and molecular studies in 80 patients 2002
P3: 663-647 The EndocrineSociety's 84th Annual Meeting., , San Francisco
Beckers, A., Daly, A.F., The clinical, pathological, and genetic features of familial isolated pituitary adenomas (2007) Eur J Endocrinol, 157, pp. 371-82
Villa, C., Magri, F., Morbini, P., Silent familial isolated pituitary adenomas: Histopathological and clinical case report (2008) Endocr Pathol, 19, pp. 40-6
Daly, A.F., Jaffrain-Rea, M.L., Ciccarelli, A., Clinical characterization of familial isolated pituitary adenomas (2006) J Clin Endocrinol Metab, 91, pp. 3316-23
Ciccarelli, A., Daly, A.F., Beckers, A., The epidemiology of prolactinomas (2005) Pituitary, 8 (1), pp. 3-6. , DOI 10.1007/s11102-005-5079-0, Special Issie on Pathogenesis, Diagnosis and Clinics of Prolactinomas
Daly, A.F., Vanbellinghen, J.F., Khoo, S.K., Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: Analysis in 73 families (2007) J Clin Endocrinol Metab, 92, pp. 1891-6
Iwata, T., Yamada, S., Mizusawa, N., Golam, H.Md., Sano, T., Yoshimoto, K., The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas (2007) Clinical Endocrinology, 66 (4), pp. 499-502. , DOI 10.1111/j.1365-2265.2007.02758.x
Toledo, R.A., Lourenco, Jr.D.M., Liberman, B., Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma (2007) J Clin Endocrinol Metab, 92, pp. 1934-7
Yu, R., Bonert, V., Saporta, I., Raffel, L.J., Melmed, S., Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas (2006) J Clin Endocrinol Metab, 91, pp. 5126-9
Barlier, A., Vanbellinghen, J.F., Daly, A.F., Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas (2007) J Clin Endocrinol Metab, 92, pp. 1952-5
Georgitsi, M., Raitila, A., Karhu, A., Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations (2007) Proc Natl Acad Sci USA, 104, pp. 4101-5
Georgitsi, M., Karhu, A., Winqvist, R., Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers (2007) Br J Cancer, 96, pp. 352-6. , 0 AD
Petrulis, J.R., Perdew, G.H., The role of chaperone proteins in the aryl hydrocarbon receptor core complex (2002) Chemico-Biological Interactions, 141 (1-2), pp. 25-40. , DOI 10.1016/S0009-2797(02)00064-9, PII S0009279702000649
Bell, D.R., Poland, A., Binding of aryl hydrocarbon receptor (AhR) to AhR-interacting protein. the role of hsp90 (2000) J Biol Chem, 275, pp. 36407-14
Meyer, B.K., Perdew, G.H., Characterization of the AhR-hsp90-XAP2 core complex and the role of the immunophilin-related protein XAP2 in AhR stabilization (1999) Biochemistry, 38, pp. 8907-17
Meyer, B., Petrulis, J., Perdew, G.H., Aryl hydrocarbon (Ah) receptor levels are selectively modulated by hsp90-associated immunophilin homolog XAP2 (2000) Cell Stress Chaperones, 5, pp. 243-54
Carver, L.A., Lapres, J.J., Jain, S., Dunham, E.E., Bradfield, C.A., Characterization of the Ah receptor-associated protein, ARA9 (1998) J Biol Chem, 273, pp. 33580-7
Bolger, G.B., Peden, A.H., Steele, M.R., Attenuation of the Activity of the cAMP-specific phosphodiesterase PDE4A5 by interaction with the immunophilin XAP2 (2003) J Biol Chem, 278, pp. 33351-63
De Oliveira, S.K., Hoffmeister, M., Gambaryan, S., Muller-Esterl, W., Guimaraes, J.A., Smolenski, A.P., Phosphodiesterase 2A forms a complex with the co-chaperone XAP2 and regulates nuclear translocation of the aryl hydrocarbon receptor (2007) J Biol Chem, 282, pp. 13656-63
Lin, B.C., Sullivan, R., Lee, Y., Moran, S., Glover, E., Bradfield, C.A., Deletion of the aryl hydrocarbon receptor-associated protein 9 leads to cardiac malformation and embryonic lethality (2007) J Biol Chem, 282, pp. 35924-32
Lin, B.C., Nguyen, L.P., Walisser, J.A., Bradfield, C.A., A hypomorphic allele of aryl hydrocarbon receptor-associated protein-9 produces a phenocopy of the Ahr-null mouse (2008) Mol Pharmacol, 74, pp. 1367-71
Naves, L.A., Daly, A.F., Vanbellinghen, J.F., Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene (2007) Eur J Endocrinol, 157, pp. 383-91