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Molecular Basis of Thyroid Cancer pp 417–428Cite as

From Genes to Decisions

Evolving Views of Genotype-Based Management in Men 2

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Part of the Cancer Treatment and Research book series (CTAR,volume 122)

Keywords

  • Medullary Thyroid Carcinoma
  • Multiple Endocrine Neoplasia Type
  • Familial Medullary Thyroid Carcinoma
  • Sporadic Medullary Thyroid Carcinoma
  • Prophylactic Thyroidectomy

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Pierotti, M. A. RET Activation in Medullary carcinomas. In: N. Farid (ed.), Molecular Basis of Thyroid Cancer: Kluwar Academic Publishers, In Press.

    Google Scholar 

  2. Easton, D. F., Ponder, M. A., Cummings, T., Gagel, R. F., Hansen, H. H., Reichlin, S., Tashjian, A. H., Telenius-Berg, M., Ponder, B. A. J., and Cancer Research Campaign Medullary Thyroid Group The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet, 44: 208–215, 1989.

    CAS  PubMed  Google Scholar 

  3. Gorlin, R. J., Sedano, H. O., Vickers, R. A., and Cervenka, J. Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid-a syndrome. Cancer, 22: 293–299, 1968.

    CAS  PubMed  Google Scholar 

  4. Leboulleux, S., Travagli, J. P., Caillou, B., Laplanche, A., Bidart, J. M., Schlumberger, M., and Baudin, E. Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course. Cancer, 94: 44–50, 2002.

    CrossRef  CAS  PubMed  Google Scholar 

  5. Carlson, K. Bracamontes, J., Jackson, C., Clark, R., Lacroix, A., Wells, S., and Goodfellow, P. Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet, 55: 1076–1082, 1994.

    CAS  PubMed  Google Scholar 

  6. Carney, J. A., Go, V. L., Sizemore, G. W., and Hayles, A. B. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med, 295: 1287–1291, 1976.

    CAS  PubMed  Google Scholar 

  7. Farndon. J. R., Leight, G. S., Dilley, W. G., Baylin, S. B., Smallridge, R. C., Harrison, T. S., and Wells, S. A. Familial medullary thyroid carcinoma without associated endoerinopathies: a distinct clinical entity. Br J Surg, 73: 278–281, 1986.

    CAS  PubMed  Google Scholar 

  8. Mulligan, L. M., Marsh, D. J., Robinson, B. G., Schuffenecker, I., Zedenius, J., Lips, C. J. M., Gagel, R. F., Takai, S.-I., Noll, W. W., Fink, M., Raue, F., Lacroix, A., Thibodeau, S. N., Frilling, A., Ponder, B. A. J., Eng, C., and International RET Mutation Consortium Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med, 238: 343–346, 1995.

    CAS  PubMed  Google Scholar 

  9. Eng, C., Clayton, D., Schuffenecker, L, Lenoir, G., Cote, G., Gagel, R. F., Ploos van Amstel, H.-K., Lips, C. J. M., Nishisho, I., Takai, S.-I., Marsh, D. J., Robinson, B. G., Frank-Raue, K., Raue, F., Xu, F., Noll, W. W, Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjöld, M., Komminoth, P., Hendy, G., Gharib, H., Thibodeau, S., Lacroix, A., Frilling, A., Ponder, B. A. J., and Mulligan, L. M. The relationship between spccific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium. JAMA, 276: 1575–1579, 1996.

    CrossRef  CAS  PubMed  Google Scholar 

  10. Brandi, M. L., Gagel, R. F., Angeli, A., Bilezikian, J. P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R. G., Libroia, A., Lips, C. J., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B. A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R. V., Thompson, N. W., Tomassetti, P., Tonelli, F., Wells, S. A., Jr., and Marx, S. J. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 86: 5658–5671, 2001.

    CrossRef  CAS  PubMed  Google Scholar 

  11. Schuchardt, A., D’Agati, V., Larsson-Blomberg, L., Costantini, F., and Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature, 367: 380–383, 1994.

    CrossRef  CAS  PubMed  Google Scholar 

  12. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H., and Di Fiore, P. P. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science, 267: 381–383, 1995.

    CAS  PubMed  Google Scholar 

  13. Asai, N., Iwashita, T, Matsuyama, M., and Takahashi, M. Mecahanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol, 15: 1613–1619, 1995.

    CAS  PubMed  Google Scholar 

  14. Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B. J., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N., and Ponder, B. A. J. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet, 6: 70–74, 1994.

    CrossRef  CAS  PubMed  Google Scholar 

  15. Schuffenecker, I., Virally-Monod, M., Brohet, R., Goldgar, D., Conte-Devolx, B., Leclerc, L., Chabre, O., Boneu, A., Caron, J., Houdent, C., Modigliani, E., Rohmer, V., Schlumberger, M., Eng, C., Guillausseau, P. J., and Lenoir, G. M. Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D’etude des Tumeurs a Calcitonine. J Clin Endocrinol Metab, 83: 487–491, 1998.

    CrossRef  CAS  PubMed  Google Scholar 

  16. Iwashita, T., Kato, M., Murakami, H., Asai, N., Ishiguro, Y., Ito, S., Iwata, Y, Kawai, K., Asai, M., Kurokawa, K., Kajita, H., and Takahashi, M. Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. Oncogene, 18: 3919–3922, 1999.

    CrossRef  CAS  PubMed  Google Scholar 

  17. Smith, D. P., Houghton, C., and Ponder, B. A. J. Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene, 15: 1213–1217, 1997.

    CrossRef  CAS  PubMed  Google Scholar 

  18. Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., Dahia, P. L. M., Mulligan, L. M., Zajac, J. D., Robinson, B. G., and Eng, C. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab, 82: 3902–3904, 1997.

    CrossRef  CAS  PubMed  Google Scholar 

  19. Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul-Fékété, C., Ponder, B. A. J., and Munnich, A. Mutations of the RET proto-oncogene in Hirschsprung’s disease. Nature, 367: 378–380, 1994.

    CrossRef  CAS  PubMed  Google Scholar 

  20. Pasini, B., Borrello, M. G., Greco, A., Bongarzone, I., Luo, Y., Mondellini, P., Alberti, L., Miranda, C., Arighi, E., Bocciardi, R., Seri, M., Barone, V, Radice, M. T., Romeo, G., and Pierotti, M. A. Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet, 10: 35–40, 1995.

    CrossRef  CAS  PubMed  Google Scholar 

  21. Iwashita, T., Murakami, H., Asai, N., and Takahashi, M. Mechanisms of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain. Hum Molec Genet, 5: 1577–1580, 1996.

    CAS  PubMed  Google Scholar 

  22. Mulligan, L. M., Eng, C., Attié, T., Lyonnet, S., Marsh, D. J., Hyland, V.J., Robinson, B. G., Frilling, A., Verellen-Dumoulin, C., Safar, A., Venter, D. J., Munnich, A., and Ponder, B. A.J. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet, 3: 2163–2167, 1994.

    CAS  PubMed  Google Scholar 

  23. Takahashi, M., Iwashita, T., Santoro, M., Lyonnet, S., Lenoir, G. M., and Billaud, M. Co-segregation of MEN2 and Hirschsprung’s disease: the same mutation of RET with both gain and loss-of-function? Hum Mutat, 13: 331–336, 1999.

    CrossRef  CAS  PubMed  Google Scholar 

  24. Torre, M., Martucciello, G., Ceccherini, I., Lerone, M., Aicardi, M., Gambini, C., and Jasonni, V. Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients. Pediatr Surg Int, 18: 378–383, 2002.

    CAS  PubMed  Google Scholar 

  25. Heshmati, H. M., Gharib, H., van Heerden, J. A., and Sizemore, G. W. Advances and controversies in the diagnosis and management of medullary thyroid carcinoma. Am J Med, 103: 60–69, 1997.

    CAS  PubMed  Google Scholar 

  26. Wells, S., Chi, D., Toshima, K., Dehner, L., Coffin, C., Dowton, B., Ivanovich, J., DeBenedetti, M., Dilley, W., Moley, J., Norton, J., and Donis-Keller, H. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg, 220: 237–250, 1994.

    PubMed  Google Scholar 

  27. Dralle, H., Gimm, O., Simon, D., Frank-Raue, K., Gortz, G., Niederle, B., Wahl, R. A., Koch, B., Walgenbach, S., Hampel, R., Ritter, M. M., Spelsberg, F., Heiss, A., Hinze, R., and Hoppner, W. Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World J Surg, 22: 744–750; discussion 750-741, 1998.

    CrossRef  CAS  PubMed  Google Scholar 

  28. Lips, C. J. M., Landsvater, R. M., Höppener, J. W. M., Geerdink, R. A., Blijham, G., Jansen-Schillhorn van Veen, J. M., van Gils, A. P. G., de Wit, M.J., Zewald, R. A., Berends, M. J. H., Beemer, F. A., Brouwers-Smalbraak, J., Jansen, R. P. M., Ploos van Amstel, H. K., van Vroonhoven, T. J. M. V, and Vroom, T. M. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med, 331: 828–835, 1994.

    CrossRef  CAS  PubMed  Google Scholar 

  29. Frank-Raue, K., Kratt, T, Hoppner, W, Buhr, H., Ziegler, R., and Raue, F. Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. Eur J Endocrinol, 135: 222–25, 1996.

    CAS  PubMed  Google Scholar 

  30. Lee, J. E., Curley, S. A., Gagel, R. F., Evans, D. B., and Hickey, R. C. Cortical-sparing adrenalectomy for patients with bilateral pheochromocytoma. Surgery, 120: 1064–1070; discussion 1070-1061, 1996.

    Google Scholar 

  31. Yip, L., Cote, G.J., Shapiro, S. E., Ayers, G. D., Herzog, C. E., Sellin, R. V, Sherman, S. I., Gagel, R. F., Lee, J. E., and Evans, D. B. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg, 138: 409–416, 2003.

    CAS  PubMed  Google Scholar 

  32. Freyer, G., Ligneau, B., Schlumberger, M., Blandy, C., Contedevolx, B., Trillet-Lenoir, V, Lenoir, G. M., Chau, N., and Dazord, A. Quality of life in patients at risk of medullary thyroid carcinoma and followed by a comprehensive medical network: trends for future evaluations. Ann Oncol, 12: 1461–1465, 2001.

    CrossRef  CAS  PubMed  Google Scholar 

  33. Feldman, G. L., Edmonds, M. W., Ainsworth, P. J., Schuffenecker, I., Lenoir, G. M., Saxe, A. W, Talpos, G. B., Roberson, J., Petrucelli, N., and Jackson, C. E. Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG->ATG) mutation. Surgery, 128: 93–98, 2000.

    CrossRef  CAS  PubMed  Google Scholar 

  34. Lombardo, F., Baudin, E., Chiefari, E., Arturi, F., Bardet, S., Caillou, B., Conte, C., Dallapiccola, B., Giuffrida, D., Bidart, J. M., Schlumberger, M., and Filetti, S. Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. J Clin Endocrinol Metab, 87: 1674–1680, 2002.

    CrossRef  CAS  PubMed  Google Scholar 

  35. Eng, C., Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F., Neumann, H. P. H., Ponder, M. A., and Ponder, B. A. J. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol, 43: 123–127, 1995.

    CAS  Google Scholar 

  36. Neumann, H. P., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C., Smith, W. M., Munk, R., Manz, T., Glaesker, S., Apel, T. W., Treier, M., Reineke, M., Walz, M. K., Hoang-Vu, C., Brauckhoff, M., Klein-Franke, A., Klose, P., Schmidt, H., Maier-Woelfle, M., Peczkowska, M., and Szmigiel-ski, C. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med, 346: 1459–1466, 2002.

    CrossRef  CAS  PubMed  Google Scholar 

  37. Lima. J., Teixeira-Gomes, J., Soares, P., Maximo, V, Honavar, M., Williams, D., and Sobrinho-Simoes, M. Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia. J Clin Endocrinol Metab, 88: 4932–4937, 2003.

    CrossRef  CAS  PubMed  Google Scholar 

  38. Sancandi, M., Griseri, P., Pesce, B., Patrone, G., Puppo, F., Lerone, M., Martucciello, G., Romeo, G., Ravazzolo, R., Devoto, M., and Ceccherini, I. Single nucleotide polymorphic alleles in the 5’ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease. J Med Genet, 40: 714–718, 2003.

    CrossRef  CAS  PubMed  Google Scholar 

  39. Borrego, S., Wright, F. A., Fernandez, R. M., Williams, N., Lopez-Alonso, M., Davuluri, R., Antinolo, G., and Eng, C., A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma. Am J Hum Genet, 72: 88–100, 2003.

    CrossRef  CAS  PubMed  Google Scholar 

  40. Griseri, P., Pesce, B., Patrone, G., Osinga, J., Puppo, F., Sancandi, M., Hofstra, R., Romeo, G., Ravaz-zolo, R., Devoto, M., and Ceccherini, I. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet, 71: 969–974, 2002.

    CrossRef  PubMed  Google Scholar 

  41. Burzynski, G. M., Nolte, I. M., Osinga, J., Ceccherini, I., Twigt, B., Maas, S. M., Brooks, A. S., Verheij, J. B. G. M., Menacho, I. P., Buys, C. H. C. M., and Hofstra, R. M. W. Mapping a putative mutation as the major contributor to the development of sporadic Hirschsprung diseae to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet, In press.

    Google Scholar 

  42. Skinner, M. A., Benedetti, M. K., Moley, J. F., Norton, J. A., and Wells, S. A., Jr. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J Pediatr Surg, 31: 177–181; discussion 181-172, 1996.

    CrossRef  CAS  PubMed  Google Scholar 

  43. Stjernholm, M. R., Freudenbourg, J. C. Mooney, H. S., Kinney, E J., and Deftos, L. J. Medullary carcinoma of the thyroid before age 2 years. J Clin Endocrinol Metab, 51: 252–253, 1980.

    CAS  PubMed  Google Scholar 

  44. Padberg, B.-C., Schröder, S., Jochum, W., Kastendieck, H., Roth, J., Heitz, P. U., and Komminoth, P. Absence of RET proto-oncogene point mutations in sporadic hyperplastic and neoplastic lesions of the parathyroid gland. Am J Pathol, 147: 1600–1607, 1995.

    CAS  PubMed  Google Scholar 

  45. Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., Dahia, P. L. M., O’Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., and Ponder, B. A. J. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet, 32: 934–937, 1995.

    CAS  PubMed  Google Scholar 

  46. Eng, C., Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F., Neumann, H. P. H., Pfragner, R., Behmel, A., Lorenzo, M. J., Stonehouse, T. J., Ponder, M. A., and Ponder, B. A. J. Mutation of the RET proto-oncogene in sporadic medullary thyroid carcinoma. Genes Chrom Canc, 12: 209–212, 1995.

    CAS  Google Scholar 

  47. Hofstra, R. M. W., Landsvater, R. M., Ceccherini, I., Stulp, R. P., Stelwagen, T., Luo, Y, Pasini, B., Höppener, J. W. M., Ploos van Amstel, H. K., Romeo, G., Lips, C. J. M., and Buys, C. H. C. M. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367: 375–376, 1994.

    CrossRef  CAS  PubMed  Google Scholar 

  48. Blaugrund, J. E., Johns, M. M., Eby, Y.J., Ball, D. W., Baylin, S. B. Hruban, R. H., and Sidransky, D. RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. Hum Mol Genet, 3: 1895–1897, 1994.

    CAS  PubMed  Google Scholar 

  49. Beldjord, C., Desclaux-Arramond, F., Raffin-Sanson, M., Corvol, J. C., De Keyser, Y., Luton, J. P., Plouin, P. F., and Bertagna, X. The RET proto-oncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects. J Clin Endocrinol Metab, 80: 2063–2068, 1995.

    CrossRef  CAS  PubMed  Google Scholar 

  50. Machens, A., Gimm, O., Hinzc, R., Hoppner, W., Boehm, B. O., and Dralle, H. Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J Clin Endocrinol Metab, 86: 1104–1109, 2001.

    CrossRef  CAS  PubMed  Google Scholar 

  51. Gimm, O. Multiple Endocrine Neoplasia Type 2: Clinical Aspects. In: P. L. Dahia and C. Eng (eds.), Genetic Disorders of Endocrine Neoplasia, 1 edition, Vol. 28, pp. 103–130. Basel: Karger, 2001.

    Google Scholar 

  52. McWhinney, S. R., Boru, G., Binkley, P. K., Peczkowska, M., Januszewicz, A. A., Neumann, H. P., and Eng, C. Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab, 88: 4911–4916, 2003.

    CrossRef  CAS  PubMed  Google Scholar 

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  1. Queen’s University, Canada

    Lois M. Mulligan

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    Nadir R. Farid

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Mulligan, L.M. (2005). From Genes to Decisions. In: Farid, N.R. (eds) Molecular Basis of Thyroid Cancer. Cancer Treatment and Research, vol 122. Springer, Boston, MA. https://doi.org/10.1007/1-4020-8107-3_24

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