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Multiple endocrine neoplasia type 2: an overview

Jessica Moline1, Charis Eng

  • 1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 10, 2011
PubMed

Insights

Multiple endocrine neoplasia type 2 (MEN2) involves RET gene mutations, leading to high risks of medullary thyroid carcinoma and other tumors. Early diagnosis and management are crucial for preventing life-threatening conditions.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) comprises three subtypes linked to germline RET proto-oncogene mutations.
  • MEN2 subtypes carry a significant risk of medullary thyroid carcinoma (MTC), pheochromocytomas, and primary hyperparathyroidism.

Purpose of the Study:

  • To provide a comprehensive overview of MEN2, including clinical presentations, diagnostic strategies, and management guidelines.
  • To emphasize the critical role of early clinical recognition and genetic testing for RET mutations in managing MEN2-associated neoplasms.

Main Methods:

  • Review of clinical descriptions of MEN2 subtypes.
  • Summary of diagnostic and testing strategies for germline RET mutations.
  • Outline of management, surveillance, and differential diagnosis for MEN2.

Main Results:

  • MEN2 subtypes share a high lifetime risk for MTC (70-100%) and pheochromocytomas (50%).
  • MEN2A has a 20-30% risk of primary hyperparathyroidism; MEN2B presents with distinct physical features and gastrointestinal issues.
  • Germline RET mutations are the underlying cause across all MEN2 subtypes.

Conclusions:

  • Clinical recognition of MEN2 subtypes and timely RET mutation testing are essential for effective prevention and management.
  • Proactive surveillance and management strategies are critical for individuals and families at risk of MEN2-related neoplasms.

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