Indication and timing of thyroid surgery for patients with hereditary medullary thyroid cancer syndromes

J Natl Compr Canc Netw. 2006 Feb;4(2):139-47. doi: 10.6004/jnccn.2006.0014.

Abstract

Hereditary medullary thyroid cancer syndromes comprise familial medullary thyroid cancer (FMTC) and multiple endocrine neoplasia types 2A and 2B. Hereditary medullary thyroid cancers have an autosomal dominant pattern of inheritance and are caused by activating germline point mutations in the RET proto-oncogene. Evaluation of the onset, extent, and progression of hereditary medullary thyroid cancer associated with specific RET mutations has enabled clinicians to treat patients based on the level of risk associated with their specific mutation. Children identified by RET screening to be at risk for the development of medullary thyroid cancer can be treated with prophylactic thyroidectomy before developing the disease. This review covers the diagnosis, evaluation, timing of surgical management, and optimal follow-up of patients with hereditary medullary thyroid cancer syndromes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biopsy, Needle
  • Carcinoma, Medullary / genetics*
  • Carcinoma, Medullary / pathology
  • Carcinoma, Medullary / surgery*
  • Chemotherapy, Adjuvant
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunohistochemistry
  • Male
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Multiple Endocrine Neoplasia Type 2a / pathology
  • Multiple Endocrine Neoplasia Type 2a / surgery
  • Mutation
  • Neoplasm Staging
  • Prognosis
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret / genetics*
  • Radiotherapy, Adjuvant
  • Risk Assessment
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology
  • Thyroid Neoplasms / surgery*
  • Thyroidectomy / methods
  • Time Factors
  • Treatment Outcome

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret