Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: Unresolved questions

Thyroid

Volumn 13, Issue 4, 2003, Pages 341-343

  Arturi, F ^a   Scarpelli, D ^a   Coco, A ^b   Sacco, R ^a   Bruno, R ^c   Filetti, S ^d   Russo, Diego ^a  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b CSS Scientific Institute   (Italy)

^c Ospedale di Tinchi Pisticci   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHODIESTERASE; THYROTROPIN RECEPTOR;

CARCINOGENESIS; GENE ACTIVATION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; THYROID ADENOMA;

EID: 0038293293     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072503321669811     Document Type: Short Survey

References (24)

1. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy G, Mockel J, Dumont JE, Vassart G 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651.
2. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh Q-Y, Clark OH, Kawasaki E, Bourne HR, McCormick F 1990 Two G protein oncogenes in human endocrine tumors. Science 249:655-659.
3. O'Sullivan C, Barton CM, Staddon SL, Brown CL, Lemoine NR 1991 Activating point mutations of the gsp oncogene in human thyroid adenomas. Mol Carcinog 4:345-349.
4. Russo D, Arturi F, Chiefari E, Filetti S 1997 Molecular insights into TSH receptor abnormality and thyroid disease. J Endocrinol Invest 20:36-47.
5. Krohn K, Paschke R 2001 Progress in understanding the etiology of thyroid autonomy. J Clin Endocrinol Metab 86:3336-3344.
6. Corvilain B, Van Sande J, Dumont JE, Vassart G 2001 Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin Endocrinol 55:143-158.
7. Kopp P 2001 The TSH receptor and its role in thyroid disease. Cell Mol Life Sci 58:1301-1322.
8. Russo D, Arturi F, Chiefari E, Filetti S 1999 Thyrotropin receptor: A role for thyroid tumorigenesis? Forum Trends Exp Clin Med 2:166-175.
9. Russo D, Arturi F, Schlumberger M, Caillou B, Monier R, Filetti S, Suarez HG 1995 Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 11:1907-1911.
10. Derwahl M 1996 Editorial: TSH receptor and Gs-α gene mutations in the pathogenesis of toxic thyroid adenomas: A note of caution. J Clin Endocrinol Metab 81:2783-2785.
11. Derwahl M, Hamacher C, Russo D, Broecker M, Manole D, Schatz H, Kopp P, Filetti S 1996 Constitutive activation of the Gs-alpha protein-Adenylate cyclase pathway may not be sufficient to generate toxic adenomas. J Clin Endocrinol Metab 81:1898-1904.
12. Russo D, Arturi F, Pontecorvi A, Filetti S 1999 Genetic analysis in fine needle aspiration biopsy of the thyroid: a new tool for the clinic. Trends Endocrinol Metab 10:280-285.
13. Takeshita A, Nagayama Y, Yokoyama N, Ito K, Yamashita T, Obara T, Murakami Y, Takamatsu J, Ohsawa N, Nagataki S 1995 Rarity of oncogenic mutations in the Thyrotropin receptor of autonomously functioning thyroid adenomas. J Clin Endocrinol Metab 80:2607-2611.
14. Trulzsch B, Krohn K, Wonerow P, Chey S, Holzapfel HP, Ackermann F, Fuhrer D, Paschke R 2001 Detection of thyroid-stimulating hormone receptor and Gs α mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. J Mol Med 78:684-691.
15. Esapa CT, Harris PE 1999 Mutation analysis of protein kinase A catalytic subunit in thyroid adenomas and pituitary tumours. Eur J Endocrinol 141:409-412.
16. Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024.
17. Ledent C, Coppee F, Dumont JE, Vassart G, Parmentier M 1996 Transgenic models for proliferative and hyperfunctional thyroid diseases. Exp Clin Endocrinol Diabetes 104(Suppl 3):43-46.
18. Arturi F, Capula C, Chiefari E, Filetti S, Russo D 1998 Thyroid hyperfunctioning adenomas with and without Gsp/TSH receptor mutations show similar clinical features. Exp Clin Endocrinol Diabetes 106:234-236.
19. Voigt C, Holzapfel HP, Paschke R 2000 Expression of β-arrestins in toxic and cold thyroid nodules. FEBS Lett 486:208-212.
20. Persani L, Lania A, Alberti L, Romoli R, Mantovani G, Filetti S, Spada A, Conti M 2000 Induction of specific phosphodiesterase isoforms by constitutive activation of the cAMP pathway in autonomous thyroid adenomas. J Clin Endocrinol Metab 85:2872-2878.
21. Brunetti A, Chiefari E, Filetti S, Russo D 2000 The cyclic AMP response elements binding protein (CREB) is functionally reduced in human toxic thyroid adenomas. Endocrinology 141:722-730.
22. Peri A, Luciani P, Tonacchera M, Agretti P, Baglioni-Peri S, Buci L, Conforti B, Cioppi F, Biliotti G, Serio M, Vitti P, Chiovato L 2002 Expression of cAMP-responsive element binding protein and inducible cAMP early repressor in hyperfunctioning thyroid adenomas. Eur J Endocrinol 146: 759-766.
23. DuVillard JA, Wicker R, Crespo P, Russo D, Filetti S, Gutkind JS, Sarasin A, Suarez HG 2000 Role of the cAMP and MAPK pathways in the transformation of mouse 3T3 fibroblasts by a TSHR gene constitutively activated by point mutation. Oncogene 19:4896-4905.
24. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G 1995 Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 79:2577-2585.