Familial isolated pituitary adenomas: From genetics to therapy

Clinical and Translational Science

Volumn 4, Issue 1, 2011, Pages 55-62

  Guaraldi, Federica ^a   Salvatori, Roberto ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

AIP gene; Familial isolated pituitary adenomas; Pituitary adenomas

Indexed keywords

AROMATIC HYDROCARBON RECEPTOR; CABERGOLINE; GROWTH HORMONE; PEGVISOMANT; SOMATOMEDIN; SOMATOSTATIN DERIVATIVE;

ACROMEGALY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARNEY COMPLEX; CASE REPORT; FAMILIAL DISEASE; FAMILIAL ISOLATED PITUITARY ADENOMA; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOPHYSIS ADENOMA; LIPOHYPERTROPHY; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; PROLACTINOMA; SEX DIFFERENCE;

FAMILY; GENES, NEOPLASM; HUMANS; PITUITARY NEOPLASMS;

EID: 79951898425     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/j.1752-8062.2010.00254.x     Document Type: Article

References (91)

1. Ezzat S, Asa SL, Couldwell WT, Barr CE, Dodge WE, Vance ME, McCutcheon IE. The prevalence of pituitary adenomas: a systematic review. Cancer. 2004; 101(3): 613-619.
2. Fernandez A, Karavitaki N, Wass JA. Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK). Clin Endocrinol (Oxf). 2010; 72(3): 377-382.
3. Daly AF, Rixhon M, Adam C, Dempegioti A, Tichomirowa MA, Beckers A. High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium. J Clin Endocrinol Metab. 2006; 91(12): 4769-4775.
4. Keil MF, Stratakis CA. Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics. Expert Rev Neurother. 2008; 8(4): 563-574.
5. Yamada S. Epidemiology of pituitary tumors.In: Thapar K, Kovacs K, Scheithauer B W, loyd R V, editors. Diagnosis and management of pituitary tumors. Totawa Humana Press; 2001: 57-69.
6. Herman V, Fagin J, Gonsky R, Kovacs K, Melmed S. Clonal origin of pituitary adenomas. J Clin Endocrinol Metab. 1990; 71(6): 1427-1433.
7. Jagannathan J, Dumont AS, Prevedello DM, Lopes B, Oskouian RJ, Jane JA Jr, Laws ER Jr. Genetics of pituitary adenomas: current theories and future implications. Neurosurg Focus. 2005; 19(5): E4.
8. Daly AF, Tichomirowa MA, Beckers A. The epidemiology and genetics of pituitary adenomas. Best Pract Res Clin Endocrinol Metab. 2009; 23(5): 543-554.
9. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006; 312(5777): 1228-1230.
10. Daly AF, Tichomirowa MA, Beckers A. Genetic, molecular and clinical features of familial isolated pituitary adenomas. Horm Res. 2009; 71(Suppl 2): 116-122.
11. Gadelha MR, Prezant TR, Une KN, Glick RP, Moskal SF 2nd, Vaisman M, Melmed S, Kineman RD, Frohman LA. Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene. J Clin Endocrinol Metab. 1999; 84(1): 249-256.
12. Yamada S, Yoshimoto K, Sano T, Takada K, Itakura M, Usui M, Teramoto A. Inactivation of the tumor suppressor gene on 11q13 in brothers with familial acrogigantism without multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1997; 82(1): 239-242.
13. 2 Samuel 21:15-22. The Bible. 1 A.D.
14. de Herder WW. Acromegaly and gigantism in the medical literature. Case descriptions in the era before and the early years after the initial publication of Pierre Marie (1886). Pituitary. 2009; 12(3): 236-244.
15. Soares BS, Frohman LA. Isolated familial somatotropinoma. Pituitary. 2004; 7(2): 95-101.
16. Linquette M, Herlant M, Laine E, Fossati P, Dupont-Lecompte J. Prolactin adenoma in a girl whose mother had had a pituitary adenoma with amenorrhea-galactorrhea. Ann Endocrinol (Paris) 1967; 28(6): 773-780.
17. Tahir A, Chahal HS, Korbonits M. Molecular genetics of the aip gene in familial pituitary tumorigenesis. Prog Brain Res. 2010; 182: 229-253.
18. 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 AV, Ellard S, Grossman AB, Korbonits M. International FIPA Consortium. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat. 2010; 31(8): 950-960.
19. Beckers A, Daly AF. The clinical, pathological and genetic features of familial isolated pituitary adenomas. Eur JEndocrino. 2007; 157: 371-382.
20. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007; 92(5): 1891-1896.
21. Daly AF, Jaffrain-Rea ML, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G, Borson-Chazot C, Estour B, Ciccarelli E, Brue T, et al. Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab. 2006; 91(9): 3316-3323.
22. Frohman LA, Eguchi K. Familial acromegaly. Growth Horm IGF Res. 2004; 14(Suppl A): S90-S96.
23. Tichomirowa MA, Daly AF, Beckers A. Familial pituitary adenomas. J Intern Med. 2009; 266(1): 5-18.
24. Cazabat L, Guillaud-Bataille M, Bertherat J, Raffin-Sanson ML. Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. Horm Res. 2009; 71(3): 132-141.
25. Bell DR, Poland A. Binding of aryl hydrocarbon receptor (AhR) to AhR-interacting protein. The role of hsp90. J Biol Chem. 2000; 275(46): 36407-36414.
26. Carver LA, Bradfield CA. Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo. J Biol Chem. 1997; 272(17): 11452-11456.
27. Perdew GH. Association of the Ah receptor with the 90-kDa heat shock protein. J Biol Chem. 1988; 263(27): 13802-13805.
28. Kazlauskas A, Poellinger L, Pongratz I. Two distinct regions of the immunophilin-like protein XAP2 regulate dioxin receptor function and interaction with hsp90. J Biol Chem. 2002; 277(14): 11795-11801.
29. de Oliveira SK, Hoffmeister M, Gambaryan S, Muller-Esterl W, Guimaraes JA, Smolenski AP. Phosphodiesterase 2A forms a complex with the co-chaperone XAP2 and regulates nuclear translocation of the aryl hydrocarbon receptor. J Biol Chem. 2007; 282(18): 13656-13663.
30. Meyer BK, Pray-Grant MG, Vanden Heuvel JP, Perdew GH. Hepatitis B virus X-associated protein 2 is a subunit of the unliganded aryl hydrocarbon receptor core complex and exhibits transcriptional enhancer activity. Mol Cell Biol. 1998; 18(2): 978-988.
31. Kang BH, Altieri DC. Regulation of survivin stability by the aryl hydrocarbon receptor-interacting protein. J Biol Chem. 2006; 281(34): 24721-24727.
32. Vargiolu M, Fusco D, Kurelac I, Dirnberger D, Baumeister R, Morra I, Melcarne A, Rimondini R, Romeo G, Bonora E. The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability. J Clin Endocrinol Metab. 2009; 94(7): 2571-2578.
33. Peng L, Mayhew CN, Schnekenburger M, Knudsen ES, Puga A. Repression of Ah receptor and induction of transforming growth factor-beta genes in DEN-induced mouse liver tumors. Toxicology 2008; 246(2-3): 242-247.
34. Barhoover MA, Hall JM, Greenlee WFThomas RS. Aryl hydrocarbon receptor regulates cell cycle progression in human breast cancer cells via a functional interaction with cyclin-dependent kinase 4. Mol Pharamcol. 2010; 77(2): 195-201.
35. Gadelha MR, Une KN, Rohde K, Vaisman M, Kineman RD, Frohman LA. Isolated familial somatotropinomas: establishment of linkage to chromosome 11q13.1-11q13.3 and evidence for a potential second locus at chromosome 2p16-12. J Clin Endocrinol Metab. 2000; 85(2): 707-714.
36. Soares BS, Eguchi K, Frohman LA. Tumor deletion mapping on chromosome 11q13 in eight families with isolated familial somatotropinoma and in 15 sporadic somatotropinomas. J Clin Endocrinol Metab. 2005; 90(12): 6580-6587.
37. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971; 68(4): 820-823.
38. Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, et al. Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. Eur J Endocrinol. 2007; 157(1): 1-8.
39. Leontiou CA, Gueorguiev M, Van Der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, et al. The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. J Clin Endocrinol Metab. 2008; 93(6): 2390-2401.
40. Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, Van Der Luijt RB, Sane T, et al. Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proc Natl Acad Sci USA. 2007; 104(10): 4101-4105.
41. Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, Tamagno G, Cazabat L, Bours V, Brue T, et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab. 2007; 92(5): 1952-1955.
42. Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010; 95(11): E373-E383.
43. Lin BC, Sullivan R, Lee Y, Moran S, Glover E, Bradfield CA. Deletion of the aryl hydrocarbon receptor-associated protein 9 leads to cardiac malformation and embryonic lethality. J Biol Chem. 2007; 282(49): 35924-35932.
44. Lin BC, Nguyen LP, Walisser JA, Bradfield CA. A hypomorphic allele of aryl hydrocarbon receptor-associated protein-9 produces a phenocopy of the AHR-null mouse. Mol Pharmacol. 2008; 74: 1367-1371.
45. Raitila A, Lehtonen H, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, Jalanko A, Paetau A, Aaltonen LA, Karhu A. Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. Am J Pathol. 2010; 177(4): 1969-1976.
46. Khoo SK, Pendek R, Nickolov R, Luccio-Camelo DC, Newton TL, Massie A, Petillo D, Menon J, Cameron D, The BT, et al. Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma. Endocr Relat Cancer. 2009; 16(3): 1057-1063.
47. De Menis, Prezant TR. Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene. Pituitary. 2002; 5(1): 11-15.
48. Heliovaara E, Raitila A, Launonen V, Paetau A, Arola J, Lehtonen H, Sane T, Weil RJ, Vierimaa O, Salmela P, et al. The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas. Am J Pathol. 2009; 175(6): 2501-2507.
49. Jaffrain-Rea ML, Angelini M, Gargano D, Tichomirowa MA, Daly AF, Vanbellinghen JF, D'Innocenzo E, Barlier A, Giangaspero F, Esposito V, et al. Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr Relat Cancer. 2009; 16(3): 1029-1043.
50. Lania A, Spada A. G-protein and signalling in pituitary tumours. Horm Res. 2009; 71(Suppl 2): 95-100.
51. Hibberts NA, Simpson DJ, Bicknell JE, Broome JC, Hoban PR, Clayton RN, Farrell WE. Analysis of cyclin D1 (CCND1) allelic imbalance and overexpression in sporadic human pituitary tumors. Clin Cancer Res. 1999; 5(8): 2133-2139.
52. Zhang X, Horwitz GA, Heaney AP, Nakashima M, Prezant TR, Bronstein MD, Melmed S. Pituitary tumor transforming gene (PTTG) expression in pituitary adenomas. J Clin Endocrinol Metab. 1999; 84(2): 761-767.
53. Karga HJ, Alexander JM, Hedley-Whyte ET, Klibanski A, Jameson JL. Ras mutations in human pituitary tumors. J Clin Endocrinol Metab. 1992; 74(4): 914-919.
54. Alvaro V, Lévy L, Dubray C, Roche A, Peillon F, Quérat B, Joubert D. Invasive human pituitary tumors express a point-mutated alpha-protein kinase-C. J Clin Endocrinol Metab. 1993; 77(5): 1125-1129.
55. Morita K, Takano K, Yasufuku-Takano J, Yamada S, Teramoto A, Takei M, Osamura RY, Sano T, Fujita T. Expression of pituitary tumour-derived, N-terminally truncated isoform of fibroblast growth factor receptor 4 (ptd-FGFR4) correlates with tumour invasiveness but not with G-protein alpha subunit (gsp) mutation in human GH-secreting pituitary adenomas. Clin Endocrinol. (Oxf) 2008; 68(3): 435-441.
56. Giacomini D, Haedo M, Gerez J, Druker J, Páez-Pereda M, Labeur M, Stalla GK, Arzt E. Differential gene expression in models of pituitary prolactin-producing tumoral cells. Horm Res. 2009; 71(Suppl 2): 88-94.
57. Georgitsi M. MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations. Best Pract Res Clin Endocrinol Metab. 2010; 24(3): 425-437.
58. Bamberger CM, Fehn M, Bamberger AM, Lüdecke DK, Beil FU, Saeger W, Schulte HM. Reduced expression levels of the cell-cycle inhibitor p27Kip1 in human pituitary adenomas. Eur J Endocrinol. 1999; 140(3): 250-255.
59. Hossain MG, Iwata T, Mizusawa N, Qian ZR, Shima SW, Okutsu T, Yamada S, Sano T, Yoshimoto K. Expression of p18(INK4C) is down-regulated in human pituitary adenomas. Endocr Pathol. 2009; 20(2): 114-121.
60. Yoshino A, Katayama Y, Ogino A, Watanabe T, Yachi K, Ohta T, Komine C, Yokoyama T, Fukushima T. Promoter hypermethylation profile of cell cycle regulator genes in pituitary adenomas. J Neurooncol. 2007; 83(2): 153-162.
61. Kirsch M, Mörz M, Pinzer T, Schackert HK, Schackert G. Frequent loss of the CDKN2C (p18INK4c) gene product in pituitary adenomas. Genes Chromosomes Cancer. 2009; 48(2): 143-154.
62. Zhang X, Sun H, Danila DC, Johnson SR, Zhou Y, Swearingen B, Klibanski A. Loss of expression of GADD45 gamma, a growth inhibitory gene, in human pituitary adenomas: implications for tumorigenesis. J Clin Endocrinol Metab. 2002; 87(3): 1262-1267.
63. 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. J Clin Endocrinol Metab. 2005; 90(4): 2179-2186.
64. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 2008; 29(1): 22-23.
65. Schmidt MC, Henke RT, Stangl AP, Meyer-Puttlitz B, Stoffel-Wagner B, Schramm J, von Deimling A. Analysis of MEN1 gene in sporadic pituitary adenomas. J Pathol. 1999; 188(2): 168-173.
66. Tanizaki Y, Jin L, Scheithauer BW, Kovacs K, Roncaroli F, Lloyd RV. P53 mutation in pituitary carcinomas. Endocr Pathol. 2007; 18(4): 217-222.
67. Bossis I, Stratakis CA. Minireview: PRKAR1A: normal and Abnormal Functions. Endocrinology. 2004; 145(12): 5452-5458.
68. Bates AS, Farrell WE, Bicknell EJ, McNicol AM, Talbot AJ, Broome JC, Perrett CW, Thakker RV, Clayton RN. Allelic deletion in pituitary adenomas reflects aggressive biological activity and has potential value as a prognostic marker. J Clin Endocrinol Metab. 1997; 82(3): 818-824.
69. Elston MS, Gill AJ, Conaglen JV, Clarkson A, Shaw JM, Law AJ, Cook RJ, Little NS, Clifton-Bligh RJ, Robinson BG, et al. Wnt pathway inhibitors are strongly down-regulated in pituitary tumors. Endocrinology. 2008; 149(3): 1235-1242.
70. Theodoropoulou M, Stalla GK, Spengler D. ZAC1 target genes and pituitary tumorigenesis. Mol Cell Endocrinol. 2010; 326(1-2): 60-65.
71. Simpson DJ, Clayton RN, Farrell WE. Preferential loss of Death Associated Protein kinase expression in invasive pituitary tumours is associated with either CpG island methylation or homozygous deletion. Oncogene 2002; 21(8): 1217-1224.
72. Vergès B, Boureille F, Goudet P, Murat A, Beckers A, Sassolas G, Cougard P, Chambe B, Montvernay C, Calender A. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab. 2002; 87(2): 457-465.
73. Machens A, Schaaf L, Karges W, Frank-Raue K, Bartsch DK, Rothmund M, Schneyer U, Goretzki P, Raue F, Dralle H. Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers. Clin Endocrinol (Oxf). 2007; 67(4): 613-622.
74. O'Brien T, O'Riordan DS, Gharib H, Scheithauer BW, Ebersold MJ, an Heerden JA. Results of treatment of pituitary disease in multiple endocrine neoplasia, type I. Neurosurgery. 1996; 39(2): 273-278.
75. Balasubramanian D, Scacheri PC. Functional studies of menin through genetic manipulation of the Men1 homolog in mice. Adv Exp Med Biol. 2009; 668: 105-115.
76. Harding B, Lemos MC, Reed AA, Walls GV, Jeyabalan J, Bowl MR, Tateossian H, Sullivan N, Hough T, Fraser WD, et al. Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia. Endocr Relat Cancer. 2009; 16(4): 1313-1327.
77. Georgitsi M, Raitila A, Karhu A, Van Der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Mäkinen MJ, Tuppurainen K, Paschke R, et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 2007; 92(8): 3321-3325.
78. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Höfler H, Fend F, Graw J, Atkinson MJ. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA. 2006; 103(42): 15558-15563.
79. Besson A, Hwang HC, Cicero S, Donovan SL, Gurian-West M, Johnson D, Clurman BE, Dyer MA, Roberts JM. Discovery of an oncogenic activity in p27Kip1 that causes stem cell expansion and a multiple tumor phenotype. Genes Dev. 2007; 21(14): 1731-1746.
80. Boikos SA, Stratakis CA. Carney complex: pathology and molecular genetics. Neuroendocrinology. 2006; 83(3-4): 189-199.
81. Boikos SA, Stratakis CA. Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. Pituitary. 2006; 9(3): 203-209.
82. Kirschner LS. PRKAR1A and the evolution of pituitary tumors. Mol Cell Endocrinol. 2010; 326(1-2): 3-7.
83. Iwata T, Yamada S, Mizusawa N, Golam HM, Sano T, Yoshimoto K. The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. Clin Endocrinol (Oxf). 2007; 66(4): 499-502.
84. th Annual Meeting of the Endocrine Society. 2008; OR38-1.
85. Montanana CF, Daly AF, Tichomirowa MA, Vanbellinghen JF, Jaffrain-Rea ML, Trescoli Serrano C, Riesgo Suares P, Gomez Vela J, Tenes S, Bours V, et al. TSH secreting pituitary adenoma in a male patient with a novel missense AIP mutation. Proceedings of the 91st Annual Meet of the Endocrine Soc. 2009; P1-668.
86. Jennings JE, Georgitsi M, Holdaway I, Daly AF, Tichomirowa M, Beckers A, Aaltonen LA, Karhu A, Cameron FJ. Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene. Eur J Endocrinol. 2009; 161(5): 799-804.
87. Raitila A, Georgitsi M, Karhu A, Tuppurainen K, Mäkinen MJ, Birkenkamp-Demtröder K, -Salmenkivi K, Orntoft TF, Arola J, Launonen V, et al. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. Endocr Relat Cancer. 2007; 14(3): 901-906.
88. Toledo RA, Lourenço DM Jr, Liberman B, Cunha-Neto MB, Cavalcanti MG, Moyses CB, Toledo SP, Dahia PL. Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. J Clin Endocrinol Metab. 2007; 92(5): 1934-1937.
89. th Annual Meeting of the Endocrine Society. 2008; P3-250.
90. Naves LA, Daly AF, Vanbellinghen JF, Casulari LA, Spilioti C, Magalhães AV, Azevedo MF, -Giacomini LA, Nascimento PP, Nunes RO, et al. Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. Eur J Endocrinol. 2007; 157(4): 383-391.
91. Georgitsi M, De Menis, Cannavò S, Mäkinen MJ, Tuppurainen K, Pauletto P, Curtò L, Weil RJ, Paschke R, Zielinski G, et al. Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. Clin Endocrinol (Oxf). 2008; 69(4): 621-627.