Update on the treatment of pituitary adenomas: Familial and genetic considerations

Acta Clinica Belgica

Volumn 63, Issue 6, 2008, Pages 418-424

  Daly, Adrian F ^a   Beckers, A ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Adenoma; AIP; Familial; MEN 1; Pituitary

Indexed keywords

AROMATIC HYDROCARBON RECEPTOR; AROMATIC HYDROCARBON RECEPTOR INTERACTING PROTEIN; UNCLASSIFIED DRUG;

BELGIUM; CANCER RADIOTHERAPY; CARNEY COMPLEX; CLINICAL FEATURE; CONFERENCE PAPER; FAMILIAL ISOLATED PITUITARY ADENOMA; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HORMONE SUBSTITUTION; HUMAN; HYPOPHYSIS ADENOMA; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NEUROSURGERY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOPHYSIOLOGY; PREVALENCE; TUMOR VOLUME;

EID: 58049101614     PISSN: 00015512     EISSN: None     Source Type: Journal    
DOI: 10.1179/acb.2008.086     Document Type: Conference Paper

References (54)

1. Ezzat S, Asa SL, Couldwell WT, et al. The prevalence of pituitary adenomas: a systematic review. Cancer 2004 Aug 1;101(3):613-9.
2. Davis JR, Farrell WE, Clayton RN. Pituitary tumours. Reproduction 2001 Mar;121(3):363-71.
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 Dec;91(12):4769-75.
4. Hemminki K, Försti A, Ji J. Incidence and familial risks in pituitary adenoma and associated tumours. Endocr Relat Cancer 2007 Mar;14(1):103-9.
5. Asa SL, Ezzat S. Genetics and proteomics of pituitary tumours. Endocrine 2005 Oct;28(1):43-7.
6. Agarwal SK, Lee Burns A, Sukhodolets KE, et al. Molecular pathology of the MEN1 gene. Ann N YAcad Sci 2004; 1014:189-98.
7. 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. Nature 1988 Mar 3;332(6159):85-7.
8. Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997 Apr 18;276(5311):404-7.
9. Scacheri PC, Davis S, Odom DT, et al. Genome-wide analysis of menin binding provides insights into MEN1 tumourigenesis. PLoS Genet 2006 Apr;2(4):e51.
10. Agarwal SK, Impey S, McWeeney S, et al. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. Neoplasia 2007 Feb;9(2):101-7.
11. 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 2007 Aug 24; [Epub ahead of print].
12. Vergès B, Boureille F, Goudet P, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab 2002 Feb;87(2):457-65.
13. Beckers A, Betea D, Valdes Socin H, Stevenaert A. The treatment of sporadic versus MEN1-related pituitary adenomas. J Int Med 2003; 253: 599-605.
14. Zhuang Z, Ezzat SZ, Vortmeyer AO, et al. Mutations of the MEN1 tumour suppressor gene in pituitary tumours. Cancer Res 1997 Dec 15;57(24):5446-51.
15. Poncin J, Stevenaert A, Beckers A. Somatic MEN1 gene mutation does not contribute significantly to sporadic pituitary tumourigenesis. Eur J Endocrinol 1999 Jun;140(6):573-6.
16. Theodoropoulou M, Cavallari I, Barzon L, et al. Differential expression of menin in sporadic pituitary adenomas. Endocr Relat Cancer 2004 Jun;11(2):333-44.
17. Beckers A, Abs R, Reyniers E, et al. Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome. J Clin Endocrinol Metab 1994 Nov;79(5):1498-502.
18. Farid NR, Buehler S, Russell NA, Maroun FB, Allerdice P, Smyth HS. Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumours. Am J Med 1980 Dec;69(6):874-80.
19. Olufemi SE, Green JS, Manickam P, et al. Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. Hum Mutat 1998;11(4):264-9.
20. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86(12): 5658-71.
21. Boikos SA, Stratakis CA. Carney complex: the first 20 years. Curr Opin Oncol 2007; 19: 24-9.
22. Casey M, Mah C, Merliss AD, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998; 98: 2560-6.
23. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86(9): 4041-6.
24. Stergiopoulos SG, Stratakis CA. Human tumours associated with Carney complex and germline PPKAR1A mutations: a protein kinase A disease! FEBS Letters 2003; 546: 59-64.
25. Kurtkaya-Yapicier O, Scheithauer BW, Carney JA, et al. Pituitary adenoma in Carney complex: an immunohistochemical, ultrastructural,and immunoelectron microscopic study. Ultrastruct Pathol 2002 Nov-Dec;26(6):345-53.
26. Kaltsas GA, Kola B, Borboli N, et al. Sequence analysis of the PRKAR1A gene in sporadic somatotroph and otherpituitary tumours. Clin Endocrinol (Oxf) 2002 Oct;57(4):443-8.
27. Fritz A, Walch A, Piotrowska K, et al. Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. Cancer Res 2002 Jun 1;62(11):3048-51.
28. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, et al. Germline mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 2006 Oct 17;103(42):15558-63.
29. Georgitsi M, Raitila A, Karhu A, et al. Germline CDKN1 B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 2007;92(8):3321-5.
30. Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol 2007 Oct;157(4):371-82.
31. Villa C, Magri F, Morbini P, et al. Silent Familial Isolated Pituitary Adenomas: Histopathological and Clinical Case Report. Endocr Pathol 2008 Mar 4 [Epub ahead of print].
32. Leontiou CA, Gueorguiev M, van der Spuy J, et al. The role of the AIP gene in familial and sporadic pituitary adenimas. J Clin Endocrinol Metab 2008 Apr 17 [Epub ahead of print].
33. Daly AF, Jaffrain-Rea ML, Ciccarelli A, et al. Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab 2006 Sep;91(9):3316-23. Epub 2006 Jun 20.
34. Ciccarelli A, Daly AF, Beckers A. The epidemiology of prolactinomas. Pituitary 2005;8(1):3-6.
35. Vierimaa O, Georgitsi M, Lehtonen R, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006;312(5777):1228-30.
36. Daly AF, Vanbellinghen JF, Khoo SK, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab 2007 May;92(5):1891-6.
37. 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 Apr;66(4):499-502.
38. Toledo RA, Lourenco DM Jr, Liberman B, et al. Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. J Clin Endocrinol Metab. 2007 May;92(5):1934-7.
39. Yu R, Bonert V, Saporta I, Raffel LJ, Melmed S. AIP variants in sporadic pituitary adenomas. J Clin Endocrinol Metab 2006 Dec;91(12):5126-9.
40. Barlier A, Vanbellinghen JF, Daly AF,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 May;92(5):1952-5. Epub 2007 Feb 13.
41. Georgitsi M, Raitila A, Karhu A, et al. Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proc Natl Acad Sci USA 2007 Mar 6;104(10):4101-5.
42. Georgitsi M, Karhu A, Winqvist R, et al. Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. Br J Cancer 2007 Jan 29;96(2):352-6.
43. Petrulis JR, Perdew GH. The role of chaperone proteins in the aryl hydrocarbon receptor core complex. Chem Biol Interact 2002;141(1-2):25-40.
44. Bell DR, Poland A. Binding of aryl hydrocarbon receptor (AhR) to AhR-interacting protein. The role of hsp90. J Biol Chem 2000; 275(46):36407-14.
45. Meyer BK, Petrulis JR, Perdew GH. Aryl hydrocarbon (Ah) receptor levels are selectively modulated by hsp90-associated immunophilin homolog XAP2. Cell Stress Chaperones 2000; 5(3):243-54.
46. Carver LA, LaPres JJ, Jain S, Dunham EE, Bradfield CA. Characterization of the Ah receptor-associated protein, ARA9. J Biol Chem 1998;273(50):33580-7.
47. Meyer BK, Perdew GH. Characterization of the AhR-hsp90-XAP2 core complex and the role of the immunophilin-related protein XAP2 in AhR stabilization. Biochemistry 1999; 38(28):8907-17.
48. Bolger GB, Peden AH, Steele MR, et al. Attenuation of the activity of the cAMP-specific phosphodiesterase PDE4A5 by interaction with the immunophilin XAP2. J Biol Chem 2003 Aug 29;278(35):33351-63.
49. 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 May 4;282(18):13656-63.
50. 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 Dec 7;282(49):35924-32.
51. Lin BC, Nguyen LP, Walisser JA, Bradfield CA. A Hypomorphic Allele of Aryl-hydrocarbon Receptor-associated-9 Produces a Phenocopy of the Ahr Null. Mol Pharmacol 2008 Jul 31. [Epub ahead of print]
52. Pesatori A, Baccarelli A, Consonni D, et al. Aryl hydrocarbon receptor interacting protein and pituitary adenomas: a population-based study on subjects exposed to dioxin after the Seveso, Italy, accident. Eur J Endocrinol 2008 Sep 11. [Epub ahead of print]
53. Naves LA, Daly AF, Vanbellinghen JF, 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 Oct;157(4):383-91.
54. Georgitsi M, Heliövaara E, Paschke R, et al. Large genomic deletions of aryl hydrocarbon receptor interacting protein (AIP) gene in pituitary adenoma predisposition J Clin Endocrin Metab Epub July 15, 2008: doi:10.1210/jc.2008-1003.