Table of Contents Author Guidelines Submit a Manuscript
Journal of Oncology
Volume 2010, Article ID 385206, 7 pages
http://dx.doi.org/10.1155/2010/385206
Review Article

Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies

1Unit of Medical Genetics, S.Orsola-Malpighi Hospital, 40138 Bologna, Italy
2Dipartimento di Anatomia Patologica, Bellaria Hospital, University of Bologna, 40138 Bologna, Italy

Received 27 August 2009; Revised 9 February 2010; Accepted 1 April 2010

Academic Editor: Steven K. Libutti

Copyright © 2010 Elena Bonora et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. World Health Organization, Classification of Tumors-Pathology and Genetics, IARC Press, Lyon, France, 2004.
  2. W. Van Veelen, J. W. B. De Groot, D. S. Acton et al., “Medullary thyroid carcinoma and biomarkers: past, present and future,” Journal of Internal Medicine, vol. 266, no. 1, pp. 126–140, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. E. Negri, C. La Vecchia, S. Franceschi, and F. Levi, “Patterns of mortality from major cancers in Europe,” Cancer Epidemiology Biomarkers and Prevention, vol. 3, no. 7, pp. 531–536, 1994. View at Google Scholar · View at Scopus
  4. V. Nosé, “Familial non-medullary thyroid carcinoma: an update,” Endocrine Pathology, vol. 19, no. 4, pp. 226–240, 2008. View at Publisher · View at Google Scholar · View at Scopus
  5. J. R. Burgess, T. Dwyer, K. McArdle, P. Tucker, and D. Shugg, “The changing incidence and spectrum of thyroid carcinoma in Tasmania (1978–1998) during a transition from iodine sufficiency to iodine deficiency,” Journal of Clinical Endocrinology and Metabolism, vol. 85, no. 4, pp. 1513–1517, 2000. View at Publisher · View at Google Scholar · View at Scopus
  6. T. Pal, F. D. Vogl, P. O. Chappuis et al., “Increased risk for nonmedullary thyroid cancer in the first degree relatives of prevalent cases of nonmedullary thyroid cancer: a hospital-based study,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 11, pp. 5307–5312, 2001. View at Publisher · View at Google Scholar · View at Scopus
  7. H. R. Harach, K. O. Franssila, and V.-M. Wasenius, “Occult papillary carcinoma of the thyroid. A “normal” finding in Finland. A systematic autopsy study,” Cancer, vol. 56, no. 3, pp. 531–538, 1985. View at Google Scholar · View at Scopus
  8. R. Ciampi and Y. E. Nikiforov, “Minireview: RET/PTC rearrangements and braf mutations in thyroid tumorigenesis,” Endocrinology, vol. 148, no. 3, pp. 936–941, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. M. A. Pierotti and A. Greco, “Oncogenic rearrangements of the NTRK1/NGF receptor,” Cancer Letters, vol. 232, no. 1, pp. 90–98, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. P. Hou, D. Liu, Y. Shan et al., “Genetic alterations and their relationship in the phosphatidylinositol 3-kinase/Akt pathway in thyroid cancer,” Clinical Cancer Research, vol. 13, no. 4, pp. 1161–1170, 2007. View at Publisher · View at Google Scholar · View at Scopus
  11. T. Fukushima and S. Takenoshita, “Roles of RAS and BRAF mutations in thyroid carcinogenesis,” Fukushima Journal of Medical Science, vol. 51, no. 2, pp. 67–75, 2005. View at Google Scholar · View at Scopus
  12. H. V. Reddi, B. McIver, S. K. G. Grebe, and N. L. Eberhardt, “The paired box-8/peroxisome proliferator-activated receptor-γ oncogene in thyroid tumorigenesis,” Endocrinology, vol. 148, no. 3, pp. 932–935, 2007. View at Publisher · View at Google Scholar · View at Scopus
  13. Y. E. Nikiforov, “Genetic alterations involved in the transition from well-differentiated to poorly differentiated and anaplastic thyroid carcinomas,” Endocrine Pathology, vol. 15, no. 4, pp. 319–327, 2004. View at Publisher · View at Google Scholar · View at Scopus
  14. M. L. Richards, “Thyroid cancer genetics: multiple endocrine neoplasia type 2, nonmedullary familial thyroid cancer, and familial syndromes associated with thyroid cancer,” Surgical Oncology Clinics of North America, vol. 18, no. 1, pp. 39–52, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. M. Capezzone, S. Marchisotta, S. Cantara et al., “Familial non-medullary thyroid carcinoma displays the features of clinical anticipation suggestive of a distinct biological entity,” Endocrine-Related Cancer, vol. 15, no. 4, pp. 1075–1081, 2008. View at Publisher · View at Google Scholar · View at Scopus
  16. D. E. Goldgar, D. F. Easton, L. A. Cannon-Albright, and M. H. Skolnick, “Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands,” Journal of the National Cancer Institute, vol. 86, no. 21, pp. 1600–1608, 1994. View at Google Scholar · View at Scopus
  17. K. Hemminki, R. Rawal, B. Chen, and J. L. Bermejo, “Genetic epidemiology of cancer: from families to heritable genes,” International Journal of Cancer, vol. 111, no. 6, pp. 944–950, 2004. View at Publisher · View at Google Scholar · View at Scopus
  18. O. Alsanea and O. H. Clark, “Familial thyroid cancer,” Current Opinion in Oncology, vol. 13, no. 1, pp. 44–51, 2001. View at Publisher · View at Google Scholar · View at Scopus
  19. D. W. Robinson and T. G. Orr, “Carcinoma of the thyroid and other diseases of the thyroid in identical twins,” Archives of Surgery, vol. 70, no. 6, pp. 923–928, 1955. View at Google Scholar
  20. F. Lesueur, M. Stark, T. Tocco et al., “Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families,” Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 6, pp. 2157–2162, 1999. View at Google Scholar · View at Scopus
  21. C. D. Malchoff, M. Sarfarazi, B. Tendler, F. Forouhar, G. Whalen, and D. M. Malchoff, “Familial papillary thyroid carcinoma is genetically distinct from familial adenomatous polyposis coli,” Thyroid, vol. 9, no. 3, pp. 247–252, 1999. View at Google Scholar · View at Scopus
  22. L. Frich, E. Glattre, and L. A. Akslen, “Familial occurrence of nonmedullary thyroid cancer: a population-based study of 5673 first-degree relatives of thyroid cancer patients from Norway,” Cancer Epidemiology Biomarkers and Prevention, vol. 10, no. 2, pp. 113–117, 2001. View at Google Scholar · View at Scopus
  23. C. D. Malchoff and D. M. Malchoff, “Familial nonmedullary thyroid carcinoma,” Cancer Control, vol. 13, no. 2, pp. 106–110, 2006. View at Google Scholar · View at Scopus
  24. J. R. Burgess, A. Duffield, S. J. Wilkinson et al., “Two families with an autosomal dominant inheritance pattern for papillary carcinoma of the thyroid,” Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 2, pp. 345–348, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. G. R. Bignell, F. Canzian, M. Shayeghi et al., “Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer,” American Journal of Human Genetics, vol. 61, no. 5, pp. 1123–1130, 1997. View at Publisher · View at Google Scholar · View at Scopus
  26. S. Neumann, H. Willgerodt, F. Ackermann et al., “Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter,” Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 10, pp. 3750–3756, 1999. View at Google Scholar · View at Scopus
  27. S. Bevan, T. Pal, C. R. Greenberg et al., “A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 8, pp. 3701–3704, 2001. View at Publisher · View at Google Scholar · View at Scopus
  28. C. D. Malchoff, M. Sarfarazi, B. Tendler et al., “Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 85, no. 5, pp. 1758–1764, 2000. View at Publisher · View at Google Scholar · View at Scopus
  29. J. D. McKay, F. Lesueur, L. Jonard et al., “Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21,” American Journal of Human Genetics, vol. 69, no. 2, pp. 440–446, 2001. View at Publisher · View at Google Scholar · View at Scopus
  30. F. Canzian, P. Amati, H. R. Harach et al., “A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2,” American Journal of Human Genetics, vol. 63, no. 6, pp. 1743–1748, 1998. View at Publisher · View at Google Scholar · View at Scopus
  31. G. Tallini, “Oncocytic tumours,” Virchows Archiv, vol. 433, no. 1, pp. 5–12, 1998. View at Publisher · View at Google Scholar · View at Scopus
  32. J. D. McKay, D. Thompson, F. Lesueur et al., “Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer,” Journal of Medical Genetics, vol. 41, no. 6, pp. 407–412, 2004. View at Google Scholar · View at Scopus
  33. F. Savagner, A. Chevrollier, D. Loiseau et al., “Mitochondrial activity in XTC.UC1 cells derived from thyroid oncocytoma,” Thyroid, vol. 11, no. 4, pp. 327–333, 2001. View at Google Scholar · View at Scopus
  34. F. Savagner, B. Franc, S. Guyetant, P. Rodien, P. Reynier, and Y. Malthiery, “Defective mitochondrial ATP synthesis in oxyphilic thyroid tumors,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 10, pp. 4920–4925, 2001. View at Publisher · View at Google Scholar · View at Scopus
  35. F. Savagner, D. Mirebeau, C. Jacques et al., “PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma,” Biochemical and Biophysical Research Communications, vol. 310, no. 3, pp. 779–784, 2003. View at Publisher · View at Google Scholar · View at Scopus
  36. O. Baris, F. Savagner, V. Nasser et al., “Transcriptional profiling reveals coordinated up-regulation of oxidative metabolism genes in thyroid oncocytic tumors,” Journal of Clinical Endocrinology and Metabolism, vol. 89, no. 2, pp. 994–1005, 2004. View at Publisher · View at Google Scholar · View at Scopus
  37. O. Baris, D. Mirebeau-Prunier, F. Savagner et al., “Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma,” Oncogene, vol. 24, no. 25, pp. 4155–4161, 2005. View at Publisher · View at Google Scholar · View at Scopus
  38. E. Bonora, A. M. Porcelli, G. Gasparre et al., “Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III,” Cancer Research, vol. 66, no. 12, pp. 6087–6096, 2006. View at Publisher · View at Google Scholar · View at Scopus
  39. G. Gasparre, A. M. Porcelli, E. Bonora et al., “Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors,” Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 21, pp. 9001–9006, 2007. View at Publisher · View at Google Scholar · View at Scopus
  40. J. Costa-Guda, T. Tokura, S. I. Roth, and A. Arnold, “Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas,” BMC Endocrine Disorders, vol. 7, article 8, 2007. View at Publisher · View at Google Scholar · View at Scopus
  41. G. Gasparre, E. Hervouet, E. de Laplanche et al., “Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma,” Human Molecular Genetics, vol. 17, no. 7, pp. 986–995, 2008. View at Publisher · View at Google Scholar · View at Scopus
  42. G. Gasparre, L. Iommarini, A. M. Porcelli et al., “An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells,” Human Mutation, vol. 30, no. 3, pp. 391–396, 2009. View at Publisher · View at Google Scholar · View at Scopus
  43. F. A. Zimmermann, J. A. Mayr, D. Neureiter et al., “Lack of complex i is associated with oncocytic thyroid tumours,” British Journal of Cancer, vol. 100, no. 9, pp. 1434–1437, 2009. View at Publisher · View at Google Scholar · View at Scopus
  44. V. Máximo, T. Botelho, J. Capela et al., “Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hürthle cell) tumours of the thyroid,” British Journal of Cancer, vol. 92, no. 10, pp. 1892–1898, 2005. View at Publisher · View at Google Scholar · View at Scopus
  45. E. Bonora, C. Evangelisti, F. Bonichon, G. Tallini, and G. Romeo, “Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas,” British Journal of Cancer, vol. 95, no. 11, pp. 1529–1536, 2006. View at Publisher · View at Google Scholar · View at Scopus
  46. K. Jazdzewski, E. L. Murray, K. Franssila, B. Jarzab, D. R. Schoenberg, and A. de la Chapelle, “Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma,” Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 20, pp. 7269–7274, 2008. View at Publisher · View at Google Scholar · View at Scopus
  47. H. He, R. Nagy, S. Liyanarachchi et al., “A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24,” Cancer Research, vol. 69, no. 2, pp. 625–631, 2009. View at Publisher · View at Google Scholar · View at Scopus
  48. L. Arnaud-Lopez, G. Usala, G. Ceresini et al., “Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function,” American Journal of Human Genetics, vol. 82, no. 6, pp. 1270–1280, 2008. View at Publisher · View at Google Scholar · View at Scopus
  49. J. Gudmundsson, P. Sulem, D. F. Gudbjartsson et al., “Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations,” Nature Genetics, vol. 41, no. 4, pp. 460–464, 2009. View at Publisher · View at Google Scholar · View at Scopus