Генетические и обменные особенности семейных изолированных аденом гипофиза
https://doi.org/10.14341/2071-8713-4817
Аннотация
Список литературы
1. Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M. Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends Endocrinol Metab 2010; 21: 419–427.
2. Tahir A, Chahal HS, Korbonits M. Molecular genetics of the aip gene in familial pituitary tumorigenesis. Prog Brain Res 2010; 182: 229–253.
3. 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; 92(5): 1891–1896.
4. Scheithauer BW, Horvath E, Lloyd RV, Kovacs K. Pathology of pituitary adenomas and pituitary hyperplasia. In: Thapar K, Kovacs K, Scheithauer BW, Lloyd RV, editors. Diagnosis and management of pituitary tumors. Totawa: Humana Press, 2001: 91–154.
5. Ezzat S, Asa SL, Couldwell WT et al. The prevalence of pituitary adenomas: a systematic review. Cancer 2004; 101(3): 613–619.
6. 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.
7. 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.
8. Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol 2007; 157(4): 371–382.
9. Leontiou CA, Gueorguiev M, van der Spuy 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.
10. Chandrasekharappa SC, Guru SC, Manickam P et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997; 276(5311): 404–407.
11. Thakker RV. Multiple endocrine neoplasia type 1 (MEN1). Best Pract Res Clin Endocrinol Metab 2010; 24(3): 355–370.
12. Scheithauer BW, Laws ER, Jr., Kovacs K, Horvath E, Randall RV, Carney JA. Pituitary adenomas of the multiple endocrine neoplasia type I syndrome. Semin Diagn Pathol 1987; 4(3): 205–211.
13. Pellegata NS, Quintanilla-Martinez L, Siggelkow H et al. 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.
14. Georgitsi M, Raitila A, Karhu A et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 2007; 92(8): 3321–3325.
15. Turner JJ, Christie PT, Pearce SH, Turnpenny PD, Thakker RV. Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). Hum Mutat 2010; 31(1): E1089–E1101.
16. Agarwal SK, Mateo CM, Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 2009; 94(5): 1826–1834.
17. Boikos SA, Stratakis CA. Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis. Hum Mol Genet 2007; 16 Spec No 1: R80–R87.
18. Vandeva S, Jaffrain-Rea ML, Daly AF, Tichomirowa M, Zacharieva S, Beckers A. The genetics of pituitary adenomas. Best Pract Res Clin Endocrinol Metab 2010; 24(3): 461–476.
19. Stratakis CA, Kirschner LS. Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16? J Clin Endocrinol Metab 2000; 85(12): 4920–4921.
20. 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): 4041–4046.
21. Xekouki P, Pacak K, Almeida M et al. Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab 2012; 97(3): E357–E366.
22. Brahma A, Heyburn P, Swords F. Familial prolactinoma occuring in association with SDHB mutation positive paraganglioma. Endocrine Abstracts Spring 19, P239. 2009. Ref Type: Abstract
23. Varsavsky M, Sebastian-Ochoa A, Torres VE. Coexistence of a pituitary macroadenoma and multicentric paraganglioma: A strange coincidence. Endocrinol Nutr 2012.
24. Denes J, Swords FM, Xekouki P et al. Familial pituitary adenoma and paraganglioma syndrome – A novel type of multiple endocrine neoplasia. Endocrine Reviews. 2012. Ref Type: Abstract
25. Wildi-Runge S, Bahubeshi A, Carret S et al. New phenotype in the familial DICER1 tumor syndrome: pituitary blastoma presenting at age 9 months. Endocrine Reviews 32 (03_MeetingAbstracts), P1-777. 2011. Ref Type: Abstract
26. Daly AF, Jaffrain-Rea ML, Ciccarelli A et al. Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab 2006; 91(9): 3316–3323.
27. Vierimaa O, Georgitsi M, Lehtonen R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006; 312(5777): 1228–1230.
28. 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.
29. Kuzhandaivelu N, Cong YS, Inouye C, Yang WM, Seto E. XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation. Nucleic Acids Res 1996; 24(23): 4741–4750.
30. Jaffrain-Rea ML, Angelini M, Gargano D 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.
31. Kasuki Jomori de PL, Vieira NL, Armondi Wildemberg LE et al. Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53. Neuroendocrinol 2011; 94(1): 39–48.
32. Trivellin G, Korbonits M. AIP and its interacting partners. J Endocrinol 2011; 210:137–155.
33. Martucci F, Trivellin G, Korbonits M. Familial isolated pituitary adenomas: an emerging clinical entity. J Endocrinol Invest 2012; 35(11): 1003–1014.
34. Occhi G, Jaffrain-Rea ML, Trivellin G et al. 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 2010; 33(11): 800–805.
35. Chahal HS, Stals K, Unterlander M et al. AIP mutation in pituitary adenomas in the 18th century and today. N Eng J Med 2011; 364(1): 43–50.
36. Hillegass JM, Murphy KA, Villano CM, White LA. The impact of aryl hydrocarbon receptor signaling on matrix metabolism: implications for development and disease. Biol Chem 2006; 387(9): 1159–1173.
37. de Oliveira SK, Smolenski A. Phosphodiesterases link the aryl hydrocarbon receptor complex to cyclic nucleotide signaling. Biochem Pharmacol 2008.
38. Monteiro P, Gilot D, Le FE, Rauch C, Lagadic-Gossmann D, Fardel O. Dioxin-mediated up-regulation of aryl hydrocarbon receptor target genes is dependent on the calcium/calmodulin/CaMKIalpha pathway. Mol Pharmacol 2008; 73(3): 769–777.
39. Barouki R, Coumoul X, Fernandez-Salguero PM. The aryl hydrocarbon receptor, more than a xenobiotic-interacting protein. FEBS Lett 2007; 581(19): 3608–3615.
40. Cannavo S, Ferrau F, Ragonese M et al. Increased prevalence of acromegaly in a highly polluted area. Eur J Endocrinol 2010; 163(4): 509–513.
41. Pesatori AC, 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.
42. Cai W, Kramarova TV, Berg P, Korbonits M, Pongratz I. The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor alpha. PloS One 2011; 6(10): e25201.
43. Igreja S, Chahal HS, King P et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat 2010; 31(8): 950–960.
44. Cazabat L, Bouligand J, Salenave S et al. Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients. J Clin Endocrinol Metab 2012.
45. Cain JW, Miljic D, Popovic V, Korbonits M. Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma. Expert Review of Endocrinology & Metabolism 2010; 5(5): 681–695.
46. Daly AF, Tichomirowa MA, Petrossians P 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.
47. Stratakis CA, Tichomirowa MA, Boikos S et al. 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. Clin Genet 2010; 78(5): 457–463.
48. 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; 104(10): 4101–4105.
49. Aaltonen LA. Aryl hydrocarbon receptor-interacting protein and acromegaly. Horm Res 2007; 68 Suppl 5: 127–131.
50. 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; 96(2): 352–356.
51. Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S. The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly. J Clin Endocrinol Metab 2005; 90(11): 6290–6295.
52. Chahal HS, Trivellin G, Leontiou CA et al. Somatostatin analogs modulate AIP in somatotroph adenomas – the role of the ZAC1 pathway. J Clin Endocrinol Metab 2012.
53. Villa C, Lagonigro MS, Magri F et al. Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein (AIP) gene mutation. Endocr Relat Cancer 2011; 13(3): 347–356.
Рецензия
Для цитирования:
Dalantaeva N.S., Dedov I.I. Генетические и обменные особенности семейных изолированных аденом гипофиза. Ожирение и метаболизм. 2013;10(2):3-10. https://doi.org/10.14341/2071-8713-4817
For citation:
, Genetic and metabolic characteristics of familial isolated pituitary adenomas. Obesity and metabolism. 2013;10(2):3-10. (In Russ.) https://doi.org/10.14341/2071-8713-4817

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