Similar prevalence of somatic TSH receptor and Gsα mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey

European Journal of Endocrinology

Volumn 155, Issue 4, 2006, Pages 535-545

  Guzo, Hulya Iliksu ^a   Bircan, Rifat ^b   Krohn, Knut ^c   Müller, Sandra ^d   Vural, Selahattin ^a   Gezen, Cem ^a   Sargin, Haluk ^a   Yavuzer, Dilek ^a   Sargin, Mehmet ^a   Cirakoglu, Beyazit ^b   Paschke, Ralf ^d  

^a DR LUTFI KIRDAR KARTAL EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^d UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; IODINE; ISOLEUCINE; LYSINE; ONCOPROTEIN; PROTEIN GS ALPHA; THYROTROPIN RECEPTOR; UNCLASSIFIED DRUG; VALINE;

ADULT; AGED; ARTICLE; CELL GROWTH; CHROMOSOME ANALYSIS; CLONAL VARIATION; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FEMALE; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IODINE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; PREVALENCE; PRIORITY JOURNAL; SOMATIC MUTATION; THYROID NODULE; TURKEY (REPUBLIC); X CHROMOSOME INACTIVATION;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GEOGRAPHY; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; IODINE; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE; RECEPTORS, THYROTROPIN; THYROID NODULE; THYROTOXICOSIS; TURKEY;

EID: 33750251520     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.02253     Document Type: Article

References (44)

1. Krohn K, Fuhrer D, Bayer Y, Eszlinger M, Brauer V, Neumann S & Paschke R. Molecular pathogenesis of euthyroid and toxic multinodular goiter. Endocrine Reviews 2005 26 504-524.
2. Krohn K & Paschke R. Clinical Review 133. Progress in understanding the etiology of thyroid autonomy. Journal of Clinical Endocrinology and Metabolism 2001 86 3336-3343.
3. Corvilain B. The natural history of thyroid autonomy and hot nodules. Annals of Endocrinology (Paris) 2003 64 17-22.
4. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh OY, Clark OH, Kawasaki E, Bourne HR & Mc Cormick F. Two G protein oncogenes in human endocrine tumors. Science 1990 249 655-659.
5. O'Sullivan C, Barton CM, Staddon SL, Brown CL & Lemoine NR. Activating point mutations of the gsp oncogene in human thyroid adenomas. Molecular Carcinogenesis 1991 4 345-349.
6. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J & Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993 365 649-651.
7. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G & Avvedimento VE. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. Journal of Clinical Endocrinology and Metabolism 1994 79 657-661.
8. Paschke R, Tonacchera M, Van Sande J, Parma J & Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. Journal of Clinical Endocrinology and Metabolism 1994 79 1785-1789.
9. Russo D, Arturi F, Wicker R, Chazenbalk GD, Schlumberger M, DuVillard JA, Caillou B, Monier R, Rapoport B, Filetti S & Suarez HG. Genetic alterations in thyroid hyperfunctioning adenomas. Journal of Clinical Endocrinology and Metabolism 1995 80 1347-1351.
10. Takeshita A, Nagayama Y, Yokoyama N, Ishikawa N, Ito K, Yamashita T, Obara T, Murakami Y, Kuma K & Takamatsu J. Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan. Journal of Clinical Endocrinology and Metabolism 1995 80 2607-2611.
11. Russo D, Arturi F, Suarez HG, Schlumberger M, Du Villard JA, Crocetti U & Filetti S. Thyrotropin receptor gene alterations in thyroid hyperfunctioning. Journal of Clinical Endocrinology and Metabolism 1996 81 1548-1551.
12. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE & Vassart G. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. Journal of Clinical Endocrinology and Metabolism 1997 82 2695-2701.
13. Fuhrer D, Holzapfel HP, Wonerow P, Scherbaum WA & Paschke R. Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. Journal of Clinical Endocrinology and Metabolism 1997 82 3885-3891.
14. Holzapfel HP, Fuhrer D, Wonerow P, Weinland G, Scherbaum WA & Paschke R. Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters. Journal of Clinical Endocrinology and Metabolism 1997 82 4229-4233.
15. Tonacchera M, Chiovato L, Pinchera A, Agretti P, Fiore E, Cetani E Rocchi R, Viacava P, Miccoli P & Vitti P. Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. Journal of Clinical Endocrinology and Metabolism 1998 83 492-498.
16. Tassi V, Di Cerbo A, Porcellini A, Papini E, Cisternino C, Crescenzi A, Scillitani A, Pizzuti A, Ratti A, Trischitta V, Avvedimento VE, Fenzi G & De Filippis V. Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters. Thyroid 1999 9 353-357.
17. Krohn K, Wohlgermuth S, Gerber H & Paschke R. Hot microscopic areas of iodine - deficient euthyroid goiters contain constitutively activating TSH receptor mutations. Journal of Pathology 2000 192 37-42.
18. Tonacchera M, Agretti P, Chiovato L, Rosellini V, Ceccarini G, Perri A, Viacava P, Naccarato AG, Miccoli P, Pinchera A & Vitti P. Activating thyrotropin receptor mutations are present in non-adenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. Journal of Clinical Endocrinology and Metabolism 2000 85 2270-2274.
19. Trulzsch B, Krohn K, Wonerow P, Chey S, Holzapfel HP, Ackermann E Fuluer D & Paschke R. Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. Journal of Molecular Medicine 2001 78 684-691.
20. Vanvooren V, Uchino S, Duprez L, Costa MJ, Vandekerckhove J, Parma J, Vassar G, Dumont JE, Van Sande J & Noguchi S. Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population. European Journal of Endocrinology 2002 147 287-291.
21. Georgopoulos NA, Sykiotis GF, Sgourou A, Papachatzopoulou A, Markou KB, Kyriazopoulou V, Papavassiliou AG & Vagenakis AG. Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway. European Journal of Endocrinology 2003 149 287-292.
22. Gozu H, Avsar M, Bircan R, Sahin S, Deyncli O, Cirakoglu B & & Akalin S. Mutations in the thyrotropin receptor signal transduction pathway in the hyperfunctioning thyroid nodules from multinodular goiters: a study in the Turkish population. Endocrine Journal 2005 52 577-585.
23. www3.who.int/whosis/micronutrient. WHO Survey: iodine status worldwide; WHO global database on iodine deficiency Geneva, 2004.
24. Vitti P, Pinchera A, DeLange F & Moiner B. Europe is still iodine deficient. IDD Newsletter 2002 8 51-55.
25. Zimmermann MB, Ito Y, Hess SY, Fujieda K & Molinari L. High thyroid volume in children with excess dietary iodine intakes. American Journal of Clinical Nutrition 2005 81 840-844.
26. Erdogan G, Erdogan MF, Emral R, Bastemir M, Sav H, Haznedaroglu D, Ustundag M, Kose R, Kamel N & Genc Y. Iodine status and goiter prevalence in Turkey before mandatory iodization. Journal of Endocrinological Investigation 2002 25 224-228.
27. Gür E, Ercan O, Can G, Akku S, Güzelyüz I, Çiftçili S, Arvas A & Ifter O. Prevalence and iodine deficiency among school children. Journal of Topical Pediatrics 2003 49 168-171.
28. Akpinar D, Tanakol R, Boztepe H, Abbasoglu S, Toker G & Alagol F. The frequency of goltre and the levels of urinary iodine among highschool students before the official iodination of salt in Turkey. Istanbul Universitesi Tip Fakultesi Dergisi 2002 65 176-181 (in Turkish).
29. Beykal S. Kocaeli ili merkez ilçesinde içme sularindaki iyot düzeyi ile i̇lkokul çocuklarinda iyot eksikliǧi ve guatr sikliǧinin karşilaştirilmasi (the correlation between iodine level in the drinking water in the Central region of Kocaeli and frequency of endemic goiter at school children, in Turkish). Istanbul: IU Cerrahpasa Tip Fakultesi Medikal Ekoloji ve Hidroklimatoloji ABD, 1999 (Doktora tezi).
30. Erdogan W. Ötiroid guatr, diǧer iyot eksikliǧi hastaliklari ve Türkiye'nin iyot durumu. In Kologlu Endokrinoloji Temel ve Klinik, 2 edn, pp, 200-210. Ed. G Erdogan. Ankara: MN Medical & Nobel, 2005.
31. Murat M. Sivas il merkezinde okul çaǧi çoculdarinda iyot eksikliǧi ve guatr prevelansi (iodine deficiency disorders and goiter prevalence at school age children in Sivas, in Turkish). Adana: Adana Çukurova Universitesi Ic Hastaliklari ABD, 2000 (Doktora tezi).
32. Hatemi H & Urgancioglu H. In Iodine Deficiency in Europe: a Continuing Concern, pp 427-430. Eds Delange, JT Dunn & D Glinoer. New York: Plenum Press, 1993.
33. IDD News Letter 1994 10 37-41.
34. Krohn K, Fuhrer D, Holzapfel HP & Paschke R. Clonal origin of toxic thyroid nodules with constitutive activating thyrotropin receptor mutations. Journal of Clinical Endocrinology and Metabolism 1998 83 130-134.
35. Borgel K, Pohlenz J, Koch HG & Bramswig JH. Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Hormone Research 2005 64 203-208.
36. Belfiore A, La Rosa GL, Padova G, Sava L, Ippolito O & Vigneri R. The frequency of cold thyroid nodules and thyroid malignancies in patients from an iodine-deficient area. Cancer 1997 15 3096-3102.
37. Saggiorato E, Mussa A, Sacerdote C, Rossetto R, Arecco F, Origlia C, Germano L, Deandreis D & Orlandi F. Piemonte Goiter Study Committee. Thyroid volume and urinary iodine excretion in the schoolchild population of a Northwestern Italian sub-Alp metropolitan area. Journal of Endocrinological Investigation 2004 27 516-522.
38. Brauer VF, Brauer WH, Fuhrer D & Paschke R. Iodine nutrition, nodular thyroid disease, and urinary iodine excretion in a German university study population. Thyroid 2005 15 364-370.
39. Demirel F, Ozer T, Gurel A, Acun C, Ozdemir H, Tomac N & Unalacak M. Effect of iodine supplementation on goiter prevalence among the pediatric population in a severely iodine deficient area. Journal of Pediatric Endocrinology and Metabolism 2004 17 73-76.
40. www.cdc.gov/nccdphp/dnpa/immpact/micronutrient_facts.htm. Assessment of Iodine Deficiency Disorders and Monitoring their Elimination: A Guide for Programme Managers 2nd edn. WHO/UNICEF/ICCIDD 2001.
41. Rasmussen LB, Ovesen L & Christiansen E. Day-to-day and within-day variation in urinary iodine excretion. European Journal of Clinical Nutrution 1999 53 401-407.
42. Andersson M, Takkouche B, Egli I, Allen HE & de Benoist B. Current global iodine status and progress over the last decade towards the elimination of the iodine deficiency. Bulletin of the World Health Organization 2005 83 518-525.
43. Bulow Pedersen I, Knudsen N, Jorgensen T, Jorgensen H, Perrild H, Ovesen L & Laurberg P. Large differences in incidences of overt hyper- and hypothyroidism associated with a small difference in iodine intake: a prospective comparative register-based population survey. Journal of Clinical Endocrinology and Metabolism 2002 87 4462-4469.
44. Trulzsch B, Krohn K, Wonerow P & Paschke R. DGGE is more sensitive for the detection of somatic point mutations than direct sequencing. Biotechniques 1999 27 266-268.