Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma?

Thyroid

Volumn 14, Issue 11, 2004, Pages 975-980

  Gozu, Hulya ^a,d   Avsar, Melike ^a   Bircan, Rifat ^a   Sahin, Serap ^a   Ahiskanali, Rengin ^a   Gulluoglu, Bahadir ^a   Deyneli, Oguzhan ^a   Ones, Tunc ^b   Narin, Yavuz ^c   Akalin, Sema ^a   Cirakoglu, Beyazit ^a  

^a Medical School   (Turkey)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c GULHANE SCHOOL OF MEDICINE   (Turkey)

^d Gayrettepe   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN RECEPTOR;

ARTICLE; CASE REPORT; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENETIC ANALYSIS; GENOMICS; HISTOPATHOLOGY; HUMAN; PRIORITY JOURNAL; THYROID CARCINOMA; THYROIDECTOMY;

EID: 10044235331     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2004.14.975     Document Type: Article

References (27)

1. Gharib H 1997 Changing concepts in the diagnosis and management of thyroid nodules. Endocrinol Metab Clin North Am 26:777-800.
2. Cirillo RL Jr, Pozderac RV, Caniano DA, Falko JM 1998 Metastatic pure papillary thyroid carcinoma presenting as a toxic hot nodule. Clin Nucl Med 23:345-349.
3. Lawrence W Jr, Kaplan BJ 2002 Diagnosis and management of patients with thyroid nodules. J Surg Oncol 80:157-170.
4. Walsh RM, Watkinson JC, Franklyn J 1999 The management of the solitary thyroid nodule: A review. Clin Otolaryngol 24:388-397.
5. Fuhrer D, Holzopfel HP, Wonerow P, Scherbaum WA, Paschke R 1997 Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules J Clin Endocrinol Metab 82:3885-3891.
6. 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.
7. Russo D, Arturi F, Suarez HG, Schlumberger M, Du Villard JA, Crocetti U, Filetti S 1996 Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 81:1548-1551.
8. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, Vassart G 1997 Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 82:2695-2701.
9. Nogueira CR, Kopp P, Arseven OK, Santos CL, Jameson JL, Medeiros-Neto G 1999 Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil. Thyroid 9:1063-1068.
10. Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA 1996 Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: Low prevalence of mutations predicts infrequent involvement in malignant transformation. J Clin Endocrinol Metab 81:3898-3901.
11. Russo D, Tumino S, Arturi F, Vigneri P, Grasso G, Pontecorvi A, Filetti S, Belfiore A 1997 Detection of an activating mutation of the thyrotropin receptor in a case of autonomously hyperfunctioning thyroid insular carcinoma. J Clin Endocrinol Metab 82:735-738.
12. Russo D, Wong MG, Costante G, Chiefari E, Treseler PA, Arturi F, Filetti S, Clark OH 1999 A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis. Thyroid 9:13-17.
13. Camacho P, Gordon D, Chiefari E, Yong S, DeJong S, Pitale S, Russo D, Filetti S. 2000 A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism. Thyroid 10:1009-1012.
14. Mircescu H, Parma J, Huot C, Deal C, Oligny LL, Vassart G, Van Vliet G 2000 Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: pathologic and molecular studies. J Pediatr 137:585-587.
15. Führer D, Tannapfel A, Sabri O, Lamesch P, Paschke R 2003 Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases. Endocr Relat Cancer 10:591-600.
16. Ahmad MF, Stenszky V, Juhazs F, Balazs G, Farid NR 1994 No mutations in the translated region of exon 1 in the TSH receptor in Graves' thyroid glands. Thyroid 4:151-153.
17. John SW, Weitzner G, Rozen R, Scriver CR 1991 A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19:408.
18. Krohn K, Wohlgemuth S, Gerber H, Paschke R 2000 Hot microscopic areas of iodine-Deficient euthyroid goitres contain constitutively activating TSH receptor mutations. J Pathol 192:37-42.
19. Orita M, Iwahana H, Kanazawa H, Hayashi H, Sekiya T 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc Natl Acad Sci USA 86:2766-2770.
20. Paul SJ, Sisson JC 1990 Thyrotoxicosis caused by thyroid cancer. Endocrinol Metab Clin North Am 19:593-612.
21. Krohn K, Paschke R 2002 Somatic mutations in thyroid nodular disease. Mol Genet Metab 75:202-208.
22. Bourasseau I, Savagner F, Rodien P, Duquenne M, Reynier P, Guyetant S, Bigorgne JC, Malthiery Y, Rohmer V 2000 No evidence of thyrotropin receptor and Gs alpha gene mutation in high iodine uptake thyroid carcinoma. Thyroid 10:761-765.
23. Russo D, Arturi F, Chiefari E, Filetti S 1997 Molecular insights into TSH receptor abnormality and thyroid disease. J Endocrinol Invest 20:36-47.
24. 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 alpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. J Mol Med 78:684-691.
25. Kosugi S, Hai N, Okamoto H, Sugawa H, Mori T 2000 A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanase patient. Eur J Endocrinol 143:471-477.
26. Moretti F, Nanni S, Pontecorvi A 2000. Molecular pathogenesis of thyroid nodules and cancer. Baillieres Best Pract Res Clin Endocrinol Metab 14:517-539.
27. Fournes B, Monier R, Michiels F, Milgrom E, Misrahi M, Feunteun J 1998 Oncogenic potential of a mutant human thyrotropin receptor expressed in FRTL-5 cells. Oncogene 16:985-990.