Skip to main content
SpringerLink
Log in

Diagnosis of Medullary Thyroid Cancer

  • Chapter
Thyroid Cancer

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Asai N, Iwashita T, Matsuyama M, Takahashi M (1995) Mechanism of activation of the RET proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 15:1613–1619

    PubMed  Google Scholar 

  2. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grußendorf M, Raue F, Ritter MM, Höppner W (1998) A new hotspot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 83:770–774

    Google Scholar 

  3. Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M, Tourniaire J, Lenoir GM, Romeo G (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10:2415–2419

    PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  5. Cohen R, Campos JM, Salaün C, Heshmati M, Kraimps JL, Proye C, Sarfati E, Henry JF, Niccoli-Sire P, Modigliani E (2000) Preoperative calcitonin levels are predictive of tumor size and postoperative calcitonin normalization in medullary thyroid carcinoma. J Clin Endocrinol Metab 85:905–918

    Article  PubMed  Google Scholar 

  6. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2:851–856

    PubMed  Google Scholar 

  7. Dottorini M, Assi A, Sironi M, Sangalli G, Spreafico G, Colombo L (1996) Multivariate analysis of patients with medullary thyroid carcinoma. Cancer 77:1556–1565

    Article  PubMed  Google Scholar 

  8. Elisei R, Bottici V, Luchetti F, Di Coscio G, Romei C, Grasso L, Miccoli P, Iacconi P, Basolo F, Pinchera A, Pacini F (2004) Impact of routine measurement of serum calcitonin on the diagnosis and outcome of medullary thyroid cancer: experience in 10,864 patients with nodular thyroid disorders. J Clin Endocrinol Metab 89:163–168

    Article  PubMed  Google Scholar 

  9. Eng C (1996) The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 335:943–951

    PubMed  Google Scholar 

  10. Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil MJ, Stonehouse TJ, Ponder MA, Jackson CE, Waterfield MD, Ponder BAJ (1995) A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 10:509–513

    PubMed  Google Scholar 

  11. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel H-KP, Lips CJM, Nishisho I, Takai S-I, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xu F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zendenius J, Nordenskjöld M, Komminoth P, Hendy G, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BAJ, Mulligan LM (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA 276:1575–1579

    PubMed  Google Scholar 

  12. Frank-Raue K, Heimbach C, Rondot S, Usadel KH, Meng W, Varma C, Fuchs-Hammoser R, Hoppner W, Schulze E, Raue F (2003) Hereditäres medulläres Schilddrüsenkarzinom—Genotyp-Phänotyp Charakterisierung. Dtsch Med Wochenschr. 128:1998–2002

    Article  PubMed  Google Scholar 

  13. Frank-Raue K, Höppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F, and the German Medullary Thyroid Carcinoma Group (1996) Mutations of the RET proto-oncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 81:1780–1783

    Article  PubMed  Google Scholar 

  14. Frank-Raue K, Kratt T, Höppner W, Buhr H, Ziegler R, Raue F (1996) Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2 — relevance of specific mutations in the RET proto-oncogene. Eur J Endocr 135:222–225

    Google Scholar 

  15. Fugazzola L, Pilotti S, Pinchera A, Vorontsova TV, Mondellini P, Bongarzone I, Greco A, Astakhova L, Butti MG, Demidchik EP, Pacini F, Pierotti MA (1995) Oncogenic rearrangements of the RET proto-oncogene in papillary thyroid carcinomas from children exposed to the Chernobyl nuclear accident. Cancer Res 55:5617–5620

    PubMed  Google Scholar 

  16. Gagel RF, Levy ML, Donovan DT, Alford BR, Wheeler T, Tschen JA (1989) Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med 111:802–806

    PubMed  Google Scholar 

  17. Giuffrida D, Gharib H (1998) Current diagnosis and management of medullary thyroid carcinoma. Ann Oncol 9:695–701

    Article  PubMed  Google Scholar 

  18. Grauer A, Raue F, Ziegler R (1998) Clinical usefulness of a new chemoluminescent two-site immunoassay for human calcitonin. Exp Clin Endocrinol Diabetes 106:353–359

    PubMed  Google Scholar 

  19. Grieco M, Santoro M, Berlingieri MT, Melillo RM, Donghi R, Bongarzone I, Pierotti MA, Della Porta G, Fusco A, Vecchio G (1990) PTC is a novel rearranged form of the RET proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell 60:557–563

    Article  PubMed  Google Scholar 

  20. Heshmati HM, Gharib H, van Heerden JA, Sizemore GW (1997) Advances and controversies in the diagnosis and management of medullary thyroid carcinoma. Am J Med 103:60–69

    PubMed  Google Scholar 

  21. Karges W, Dralle H, Raue F, Mann K, Reiners C, Grussendorf M, Hüfner M, Niederle B, Brabant G (2004) Calcitonin measurement to detect medullary thyroid carcinoma in nodular goiter: German evidence-based consensusn recommendation. Exp Clin Endocrinol Diabetes 112:52–58

    PubMed  Google Scholar 

  22. Kebebew E, Ituarte PHG, Siperstein AE, Duh QY, Clark OH (2000) Medullary thyroid carcinoma: Clinical characteristics, treatment, prognostic factores, and a comparison of staging systems. Cancer 88:1139–1148

    Article  PubMed  Google Scholar 

  23. Machens A, Nicolli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Delvox B, Dralle H (2003) Early malignant progression of hereditary medullary thyroid cancer. New Engl J Med:349:1617–1525

    Article  Google Scholar 

  24. Moers AM, Lansvater RM, Schaap C, Jansen-Schillhorn von Veen JM, Valk IAJ de, Blijham GH, Höppner JWM, Vroom TM, Amstel HKP van, Lips CJM (1996) Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family. Am J Med 101:635–641

    Article  PubMed  Google Scholar 

  25. Mulligan LM, Marsh DJ, Robinson BG, Schuffenecker I, Zedenius J, Lips CJ, Gager RF, Takai SI, Noll WW, Fink M (1995) Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med 238:343–346

    PubMed  Google Scholar 

  26. O'Riordian D, O'Brien T, Crotty TB, Garib H, Grant CS, Heerden JA van (1995) Multiple endocrine neoplasia type 2b: more than an endocrine disorder. Surgery 118:936–942

    PubMed  Google Scholar 

  27. Pacini F, Fontanelli M, Fugazzola L, Elisei R, Romei C, Di Coscio G, Miccoli P, Pinchera A (1994) Routine measurement of serum calcitonin in nodular thyroid diseases allows the preoperative diagnosis of unsuspected sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 78:826–829

    PubMed  Google Scholar 

  28. Raue F (1998) German medullary thyroid carcinoma/multiple endocrine neoplasia registry. Langenbecks Arch Surg 383:334–336

    Article  PubMed  Google Scholar 

  29. Raue F, Grauer A (1994) Determination of tumor markers in diagnosis and follow-up of patients with medullary thyroid carcinoma. Exp Clin Endocrinol 102[Suppl 2]:67–73

    Google Scholar 

  30. Raue F, Kotzerke J, Reinwein D, Schröder S, Röher HD, Deckart H, Höfer R, Ritter M, Seif F, Buhr HJ, Beyer J, Schober O, Becker W, Neumann H, Calvi J, Winter J, Vogt H, and the German Medullary Thyroid Carcinoma Study Group (1993) Prognostic factors in medullary thyroid carcinoma: evaluation of 741 patients from the German medullary thyroid carcinoma register. Clin Invest 71:7–12

    Article  Google Scholar 

  31. Raue F, Frank-Raue K, Grauer A (1994) Multiple endocrine neoplasia type 2, clinical features and screening. Endocrinol Metab Clin North Am 23:137–156

    PubMed  Google Scholar 

  32. Raue F, Kraimps JL, Dralle H, Cougard P, Proye C, Frilling A, Limbert E, LLenas LF, Niederle B (1995) Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med 238:369–373

    PubMed  Google Scholar 

  33. Rieu M, Lame M-C, Richard A, Lissak B, Sambort B, Vuong-Ngoc P, Berrod J-L, Fombeur J-P (1995) Prevalence of sporadic medullary thyroid carcinoma: the importance of routine measurement of serum calcitonin in the diagnostic evaluation of thyroid nodules. Clin Endocrinol 42:453–460

    Google Scholar 

  34. Russo D, Chiefari E, Meringolo D, Bianchi D, Bellanova B, Filetti S (1997) A case of metastatic medullary thyroid carcinoma: early identification before surgery of an RET proto-oncogene somatic mutation in fine needle aspirate specimens. J Clin Endocrinol Metab 82:3378–3382

    PubMed  Google Scholar 

  35. Santoro M, Carlomagno F, Romano A, et al. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 267:381–383

    PubMed  Google Scholar 

  36. Schilling T, Bürck J, Sinn H, Clemens A, Otto H, Höppner W, Herfarth C, Ziegler R, Schwab M, Raue F (2001) Prognostic value of codon 918 (ATG-ACG) RET protooncogene mutations in sporadic medullary thyroid carcinoma. Int J Cancer 95:62–66

    Article  PubMed  Google Scholar 

  37. Schröder S, Holl K, Padberg BC (1992) Pathology of sporadic and hereditary medullary thyroid carcinoma. Rec Res Cancer Res 125:19–45

    Google Scholar 

  38. Scopsi L, Sampietro G, Boracchi P, Del Bo R, Gullo M, Placucci M, Pilotti S (1996) Multivariate analysis of prognostic factors in sporadic medullary carcinoma of the thyroid. Cancer 78:2173–2183

    Article  PubMed  Google Scholar 

  39. Smith DP, Houghton C, Ponder BA (1997) Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 15:1213–1217

    Article  PubMed  Google Scholar 

  40. Vasen, HF, van der Feltz M, Raue F, Nieuwenhuyzen Kruseman A, Koppeschaar HPF, Pieters G, Seif f J, Blum WF, Lips CJM (1992) The natural course of multiple endocrine neoplasia type 2 b. Arch Intern Med 152:1250–1252

    Article  PubMed  Google Scholar 

  41. Vierhapper H, Raber W, Bieglmayer C, Kaserer K, Weinhäusl A, Niederle B (1997) Routine measurement of plasma calcitonin in nodular thyroid diseases. J Clin Endocrinol Metab 82:1589–1593

    PubMed  Google Scholar 

  42. Wohllk N, Cote GJ, Bugalho MMJ, Ordonez N, Evans DB, Goepfert H, Khorana S, Schultz P, Richards S, Gagel RS (1996) Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endorinol Metab 81:3740–3745

    Article  Google Scholar 

  43. Zedenius J, Wallin G, Hamberger B, Nordenskjöld M, Weber G, Larsson C (1994) Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC's. Hum Mol Genet 3:1259–1262

    PubMed  Google Scholar 

  44. Zedenius J, Larsson C, Bergholm U, Bovée J, Svensson A, Hallergren B, Grimelius L, Bäckdahl M, Weber G, Wallin G (1995) Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinoma. J Clin Endocrind Metab 80:3088–3090

    Article  Google Scholar 

Download references

Authors
  1. F. Raue
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Frank-Raue
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Klinik und Poliklinik für Nuklearmedizin, Rheinische Friedrich-Wilhelms-Universität, Sigmund-Freud-Strasse 25, 53127, Bonn, Germany

    H.-J. Biersack (Professor Dr. med.) (Professor Dr. med.)

  2. Klinik für Nuklearmedizin, Universität Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany

    F. Grünwald (Professor Dr. med.) (Professor Dr. med.)

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Raue, F., Frank-Raue, K. (2005). Diagnosis of Medullary Thyroid Cancer. In: Biersack, HJ., Grünwald, F. (eds) Thyroid Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27845-1_17

Download citation

  • DOI: https://doi.org/10.1007/3-540-27845-1_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22309-2

  • Online ISBN: 978-3-540-27845-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation