Update: Update in thyroidology

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 10, 2007, Pages 3755-3761

  Ridgway, E Chester ^a,d   Tomer, Yaron ^b   McLachlan, Sandra M ^c  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; LEVOTHYROXINE; MITOGEN ACTIVATED PROTEIN KINASE; RADIOACTIVE IODINE; THYROID HORMONE; THYROTROPIN;

AUTOIMMUNE DISEASE; CANCER RECURRENCE; CARDIOVASCULAR RISK; CLINICAL TRIAL; GENE MUTATION; GENETIC VARIABILITY; GRAVES DISEASE; HORMONAL THERAPY; HUMAN; HYPOTHYROIDISM; NONHUMAN; OUTCOME ASSESSMENT; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; THYROID CANCER; THYROID DISEASE; THYROTROPIN BLOOD LEVEL; ANIMAL; ARTICLE; ENDOCRINOLOGY; GENETICS; MEDICAL GENETICS; PATHOPHYSIOLOGY; PHYSIOLOGY; THYROID GLAND;

ANIMALS; ENDOCRINOLOGY; GENETICS, MEDICAL; HUMANS; THYROID DISEASES; THYROID GLAND;

EID: 35348937628     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1855     Document Type: Article

References (51)

1. Surks MI, Ortiz E, Daniels GH, Sawin CT, Col NF, Cobin RH, Franklyn JA, Hershman JM, Burman KD, Denke MA, Gorman C, Cooper RS, Weissman NJ 2004 Subclinical thyroid disease: scientific review and guidelines for diagnosis and management. JAMA 291:228-238
2. Biondi B, Cooper DS, The clinical significance of subclinical thyroid dysfunction. Endocr Rev, in press
3. Razvi S, Ingoe L, Keeka G, Oates C, McMillan C, Weaver JU 2007 The beneficial effect of l-thyroxine on cardiovascular risk factors, endothelial function, and quality of life in subclinical hypothyroidism: randomized, crossover trial. J Clin Endocrinol Metab 92:1715-1723
4. Rodondi N, Aujesky D, Vittinghoff E, Cornuz J, Bauer DC 2006 Subclinical hypothyroidism and the risk of coronary heart disease: a meta-analysis. Am J Med 119:541-551
5. Volzke H, Schwahn C, Wallaschofski H, Dorr M 2007 Review: the association of thyroid dysfunction with all-cause and circulatory mortality: is there a causal relationship? J Clin Endocrinol Metab 92:2421-2429
6. Hennemann G, Docter R, Friesema EC, de Jong M, Krenning EP, Visser TJ 2001 Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocr Rev 22:451-476
7. Jansen J, Friesema EC, Milici C, Visser TJ 2005 Thyroid hormone transporters in health and disease. Thyroid 15:757-768
8. Allan W, Herndon CN, Dudley FC 1944 Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325-334
9. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74:168-175
10. Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364:1435-1437
11. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S 2006 Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology 147:4036-4043
12. Trajkovic M, Visser TJ, Mittag J, Horn S, Lukas J, Darras VM, Raivich G, Bauer K, Heuer H 2007 Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest 117:627-635
13. Tomer Y, Davies TF 2003 Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Endocr Rev 24:694-717
14. Jacobson EM, Tomer Y 2007 The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J Autoimmun 28:85-98
15. Banchereau J, Bazan F, Blanchard D, Briere F, Galizzi JP, van Kooten C, Liu YJ, Rousset F, Saeland S 1994 The CD40 antigen and its ligand. Annu Rev Immunol 12:881-922
16. Tomer Y, Concepcion E, Greenberg DA 2002 A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12:1129-1135
17. Jacobson EM, Concepcion E, Oashi T, Tomer Y 2005 A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology. Endocrinology 146:2684-2691
18. Jacobson EM, Huber AK, Akeno N, Sivak M, Li CW, Concepcion E, Ho K, Tomer Y 2007 A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression. Genes Immun 8:205-214
19. Metcalfe RA, McIntosh RS, Marelli-Berg F, Lombardi G, Lechler R, Weetman AP 1998 Detection of CD40 on human thyroid follicular cells: analysis of expression and function. J Clin Endocrinol Metab 83:1268-1274
20. Smith TJ, Sciaky D, Phipps RP, Jennings TA 1999 CD40 expression in human thyroid tissue: evidence for involvement of multiple cell types in autoimmune and neoplastic diseases. Thyroid 9:749-755
21. Bottazzo GF, Pujol-Borrell R, Hanafusa T, Feldmann M 1983 Role of aberrant HLA-DR expression and antigen presentation in induction of endocrine autoimmunity. Lancet 2:1115-1119
22. Nagayama Y, Kita-Furuyama M, Ando T, Nakao K, Mizuguchi H, Hayakawa T, Eguchi K, Niwa M 2002 A novel murine model of Graves' hyperthyroidism with intramuscular injection of adenovirus expressing the thyrotropin receptor. J Immunol 168:2789-2794
23. Chen CR, Pichurin P, Nagayama Y, Latrofa F, Rapoport B, McLachlan SM 2003 The thyrotropin receptor autoantigen in Graves' disease is the culprit as well as the victim. J Clin Invest 111:1897-1904
24. Chazenbalk GD, Pichurin P, Chen CR, Latrofa F, Johnstone AP, McLachlan SM, Rapoport B 2002 Thyroid-stimulating autoantibodies in Graves' disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor. J Clin Invest 110:209-217
25. Chen CR, Aliesky H, Pichurin PN, Nagayama Y, McLachlan SM, Rapoport B 2004 Susceptibility rather than resistance to hyperthyroidism is dominant in a thyrotropin receptor adenovirus-induced animal model of Graves' disease as revealed by BALB/c-C57BL/6 hybrid mice. Endocrinology 145:4927-4933
26. Williams RW, Gu J, Qi S, Lu L 2001 The genetic structure of recombinant inbred mice: high-resolution consensus maps for complex trait analysis. Genome Biol 2:RESEARCH0046
27. Aliesky HA, Pichurin PN, Chen CR, Williams RW, Rapoport B, McLachlan SM 2006 Probing the genetic basis for thyrotropin receptor antibodies and hyperthyroidism in immunized CXB recombinant inbred mice. Endocrinology 147:2789-2800
28. McLachlan SM 1993 The genetic basis of autoimmune thyroid disease: time to focus on chromosomal loci other than the major histocompatibility complex (HLA in man). J Clin Endocrinol Metab 77:605A-605C
29. Boelaert K, Horacek J, Holder RL, Watkinson JC, Sheppard MC, Franklyn JA 2006 Serum thyrotropin concentration as a novel predictor of malignancy in thyroid nodules investigated by fine-needle aspiration. J Clin Endocrinol Metab 91:4295-4301
30. Jonklaas J, Sarlis NJ, Litofsky D, Ain KB, Bigos ST, Brierley JD, Cooper DS, Haugen BR, Ladenson PW, Magner J, Robbins J, Ross DS, Skarulis M, Maxon HR, Sherman SI 2006 Outcomes of patients with differentiated thyroid carcinoma following initial therapy. Thyroid 16:1229-1242
31. Hovens GC, Stokkel MP, Kievit J, Corssmit EP, Pereira AM, Romijn JA, Smit JW 2007 Associations of serum thyrotropin concentrations with recurrence and death in differentiated thyroid cancer. J Clin Endocrinol Metab 92:2610-2615
32. Cooper DS, Doherty GM, Haugen BR, Kloos RT, Lee SL, Mandel SJ, Mazzaferri EL, McIver B, Sherman SI, Tuttle RM 2006 Management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 16:109-142
33. Ciampi R, Nikiforov YE 2007 Minireview: RET/PTC rearrangements and BRAF mutations in thyroid tumorigenesis. Endocrinology 148:936-941
34. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA 2002 Mutations of the BRAF gene in human cancer. Nature 417:949-954
35. Xing M 2005 BRAF mutation in thyroid cancer. Endocr Relat Cancer 12:245-262
36. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA 2003 High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 63:1454-1457
37. Xing M, Westra WH, Tufano RP, Cohen Y, Rosenbaum E, Rhoden KJ, Carson KA, Vasko V, Larin A, Tallini G, Tolaney S, Holt EH, Hui P, Umbricht CB, Basaria S, Ewertz M, Tufaro AP, Califano JA, Ringel MD, Zeiger MA, Sidransky D, Ladenson PW 2005 BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab 90:6373-6379
38. Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A, Santoro M, Fagin JA, Nikiforov YE 2003 BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 88:5399-5404
39. Riesco-Eizaguirre G, Gutierrez-Martinez P, Garcia-Cabezas MA, Nistal M, Santisteban P 2006 The oncogene BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane. Endocr Relat Cancer 13:257-269
40. Kim KH, Kang DW, Kim SH, Seong IO, Kang DY 2004 Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 45:818-821
41. Xing M, BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev, in press
42. Chung KW, Yang SK, Lee GK, Kim EY, Kwon S, Lee SH, Park DJ, Lee HS, Cho BY, Lee ES, Kim SW 2006 Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAF600E mutation-prevalent area. Clin Endocrinol (Oxf) 65:660-666
43. Kim TY, Kim WB, Rhee YS, Song JY, Kim JM, Gong G, Lee S, Kim SY, Kim SC, Hong SJ, Shong YK 2006 The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma. Clin Endocrinol (Oxf) 65:364-368
44. Durante C, Puxeddu E, Ferretti E, Morisi R, Moretti S, Bruno R, Barbi F, Avenia N, Scipioni A, Verrienti A, Tosi E, Cavaliere A, Gulino A, Filetti S, Russo D 2007 BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. J Clin Endocrinol Metab 92:2840-2843
45. Liu D, Hu S, Hou P, Jiang D, Condouris S, Xing M 2007 Suppression of BRAF/MEK/MAPkinase pathway restores expression of iodide-metabolizing genes in thyroid cells expressing the V600E BRAF mutant. Clin Cancer Res 13:1341-1349
46. Hoque MO, Rosenbaum E, Westra WH, Xing M, Ladenson P, Zeiger MA, Sidransky D, Umbricht CB 2005 Quantitative assessment of promoter methylation profiles in thyroid neoplasms. J Clin Endocrinol Metab 90:4011-4018
47. Hu S, Liu D, Tufano RP, Carson KA, Rosenbaum E, Cohen Y, Holt EH, Kiseljak-Vassiliades K, Rhoden KJ, Tolaney S, Condouris S, Tallini G, Westra WH, Umbricht CB, Zeiger MA, Califano JA, Vasko V, Xing M 2006 Association of aberrant methylation of tumor suppressor genes with tumor aggressiveness and BRAF mutation in papillary thyroid cancer. Int J Cancer 119:2322-2329
48. Jo YS, Li S, Song JH, Kwon KH, Lee JC, Rha SY, Lee HJ, Sul JY, Kweon GR, Ro HK, Kim JM, Shong M 2006 Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. J Clin Endocrinol Metab 91:3667-3670
49. Palona I, Namba H, Mitsutake N, Starenki D, Podtcheko A, Sedliarou I, Ohtsuru A, Saenko V, Nagayama Y, Umezawa K, Yamashita S 2006 BRAFV600E promotes invasiveness of thyroid cancer cells through nuclear factor βB activation. Endocrinology 147:5699-5707
50. Liu D, Liu Z, Condouris S, Xing M 2007 BRAF V600E maintains proliferation, transformation, and tumorigenicity of BRAF-mutant papillary thyroid cancer cells. J Clin Endocrinol Metab 92:2264-2271
51. Chiloeches A, Marais R 2006 Is BRAF the Achilles' heel of thyroid cancer? Clin Cancer Res 12:1661-1664