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Published on: August 25, 2023

Multiple endocrine neoplasia type 2: From molecular genetics to precision therapy

Daniel Bulzico1, Elisa Lamback2, Catherine Skefos3

  • 1Nuclear Medicine Service and Endocrine Oncology Unit, Brazilian National Cancer Institute, Praça Cruz Vermelha, 23, Rio de Janeiro, RJ 20230-130, Brazil.

Best Practice & Research. Clinical Endocrinology & Metabolism
|June 15, 2026
PubMed

Insights

Multiple endocrine neoplasia type 2 (MEN2) is a hereditary syndrome driven by the RET proto-oncogene. Understanding genotype-phenotype correlations guides early diagnosis and targeted therapies for medullary thyroid carcinoma and pheochromocytoma.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder.
  • It is characterized by an increased risk of medullary thyroid carcinoma (MTC) and pheochromocytoma.
  • The RET proto-oncogene is the primary molecular driver of MEN2.

Purpose of the Study:

  • To review genotype-phenotype correlations in MEN2.
  • To discuss clinical manifestations and current therapeutic strategies for MEN2-associated tumors.
  • To propose an algorithm for managing advanced MTC and metastatic pheochromocytoma.

Main Methods:

  • Review of existing literature on MEN2.
  • Analysis of genotype-phenotype correlations.
  • Evaluation of current treatment strategies, including tyrosine kinase inhibitors.

Main Results:

  • The RET proto-oncogene's discovery has transformed MEN2 management.
  • Early diagnosis through genetic screening enables prophylactic thyroidectomy and pheochromocytoma screening.
  • Systemic therapies, including selective tyrosine kinase inhibitors, show efficacy in advanced disease.

Conclusions:

  • Understanding RET mutations is crucial for personalized MEN2 management.
  • A multidisciplinary approach is essential for optimal patient outcomes.
  • The proposed treatment algorithm aims to standardize care for advanced MEN2-related malignancies.
Keywords:
RET receptormedullary thyroid carcinomamultiple endocrine neoplasia type 2pheochromocytomatyrosine kinase inhibitors

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