Advances in the management of hereditary medullary thyroid cancer

J Intern Med. 2005 Jan;257(1):50-9. doi: 10.1111/j.1365-2796.2004.01423.x.

Abstract

This work draws on recent advances during the era of codon-oriented prophylactic surgery for hereditary medullary thyroid cancer (MTC). Milestones included identification of RET (REarranged during Transfection) as the susceptibility gene, introduction of prophylactic surgery on evidence of a RET germline mutation, revelation of genotype-phenotype correlations within the MEN 2 spectrum and demonstration of age-related progression of MTC. Novel surgical techniques, notably systemic microdissection and compartment-oriented surgery, have greatly enhanced surgical cure. Uncovering molecular pathways from RET genotype to MEN 2 phenotype should provide treatment options for RET mutation carriers whose MTC currently is too advanced for cure.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Calcitonin / blood
  • Colon / surgery
  • Disease Progression
  • Genotype
  • Humans
  • Multiple Endocrine Neoplasia / genetics
  • Multiple Endocrine Neoplasia / pathology
  • Multiple Endocrine Neoplasia / surgery
  • Neoplasm Metastasis / pathology
  • Phenotype
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology
  • Thyroid Neoplasms / surgery
  • Thyroidectomy / methods

Substances

  • Proto-Oncogene Proteins
  • Calcitonin
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases