Chapter 9. Hereditary Medullary and Familial Non-Medullary Thyroid Carcinoma

  1. Prof. Dr. Heike Allgayer PhD2,
  2. Prof. Dr. Helga Rehder3 and
  3. Prof. Dr. Simone Fulda4
  1. Theresia Weber

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch9

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Weber, T. (2008) Hereditary Medullary and Familial Non-Medullary Thyroid Carcinoma, in Hereditary Tumors: From Genes to Clinical Consequences (eds H. Allgayer, H. Rehder and S. Fulda), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527627523.ch9

Editor Information

  1. 2

    University of Heidelberg and DKFZ (German Cancer Research Center) Heidelberg, Medical Faculty Mannheim, Chair of Experimental Surgery, Theodor-Kutzer-Ufer 1–3, 68167 Mannheim, Germany

  2. 3

    Medical University Vienna, Department of Medical Genetics, Währinger Strasse 10, 1090 Wien, Austria

  3. 4

    Ulm University Children's Hospital, Eythstrasse 24, 89075 Ulm, Germany

Author Information

  1. University Hospital Ulm, Department of Surgery, Steinhoevelstrasse 9, 89075 Ulm, Germany

Publication History

  1. Published Online: 21 AUG 2009
  2. Published Print: 17 DEC 2008

ISBN Information

Print ISBN: 9783527320288

Online ISBN: 9783527627523



  • C-cell;
  • Hürthle cell cancer;
  • medullary;
  • metastasis;
  • RET proto-oncogene;
  • thyroid


Hereditary medullary thyroid carcinoma (MTC) and familial nonmedullary thyroid carcinoma (FNMTC) account for approximately 20 and 5%, respectively, of all patients with medullary and papillary thyroid carcinoma (PTC). For MTC, a germline mutation of the rearranged during transfection (RET) proto-oncogene associated with multiple endocrine neoplasia 2A was described in 1993. Mutations of the RET proto-oncogene, localized on chromosome 10q11.2, are inherited in an autosomal dominant pattern. Genetic testing for RET proto-oncogene mutations enables identification of individuals at risk of developing MTC. For carriers of intermediate or high-risk RET oncogene mutations, prophylactic thyroidectomy is recommended during childhood. For symptomatic MTC, thyroidectomy and systematic compartment-oriented cervicocentral and cervicolateral neck dissection provides the best results for biochemical cure.

FNMTC is mostly found in patients with PTC. The genetic inheritance of FNMTC remains unknown, but it is believed to follow an autosomal dominant pattern with incomplete penetrance. In FNMTC families, some of the members are affected by thyroid carcinoma, while others present with non-malignant multi-nodular goiter. As seen in patients with hereditary MTC, hereditary PTC tends to be multifocal and bilateral. The biological behavior of FNMTC tends to be more aggressive than the sporadic form. In FNMTC, cervical lymph node involvement and distant metastases are found more frequently than in sporadic PTC. Surgery for FNMTC includes total thyroidectomy, and a prophylactic central neck dissection (level VI).