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Multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma: Turkish experience

Murat Faik Erdogan1, Alptekin Gursoy

  • 1Ankara University, School of Medicine, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey. murat.erdogan@temd.org.tr

Pediatric Endocrinology Reviews : PER
|January 30, 2008
PubMed

Insights

Genetic testing for Multiple Endocrine Neoplasia type 2 (MEN 2) allows early detection of gene carriers. This enables prophylactic thyroidectomy, preventing disease development in individuals with MEN 2 syndromes.

Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Multiple Endocrine Neoplasia type 2 (MEN 2) is a rare, inherited cancer syndrome.
  • Caused by mutations in the ret proto-oncogene, MEN 2 presents in three subtypes: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma.
  • Identifying the disease gene facilitates DNA-based mutation detection.

Purpose of the Study:

  • To report clinical and molecular findings in Turkish MEN 2 families and sporadic medullary thyroid carcinoma patients.
  • To highlight the impact of genetic identification on early diagnosis and management.
  • To review experience between 1994 and 2005.

Main Methods:

  • Genetic analysis of ret proto-oncogene mutations.
  • Clinical evaluation of patients diagnosed with MEN 2 syndromes and sporadic medullary thyroid carcinoma.
  • Review of patient data from 1994-2005.

Main Results:

  • Established DNA-based strategies for mutation detection in MEN 2.
  • Enabled early identification of gene carriers for MEN 2 syndromes.
  • Facilitated timely prophylactic thyroidectomy in identified carriers.

Conclusions:

  • Genetic testing for ret proto-oncogene mutations is crucial for diagnosing MEN 2 syndromes.
  • Early detection and prophylactic surgery significantly improve outcomes for MEN 2 patients.
  • This approach is vital for managing familial cancer syndromes.

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