Multiple endocrine neoplasia type 2

Maya Lodish

doi:10.1159/000345667

Multiple endocrine neoplasia type 2

Front Horm Res. 2013:41:16-29. doi: 10.1159/000345667. Epub 2013 Mar 19.

Author

Maya Lodish¹

Affiliation

¹ Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. lodishma @ mail.nih.gov

PMID: 23652668
DOI: 10.1159/000345667

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal-dominant cancer syndrome characterized by variable penetrance of medullary thyroid carcinoma(MTC), pheochromocytoma (PHEO), and primary hyperparathyroidism (PHPT). MEN2 consists of two clinical subtypes, MEN2A and MEN2B. Familial medullary thyroid cancer is now viewed as a phenotypic variant of MEN2A with decreased penetrance for PHEO and PHPT rather than a distinct entity. All subtypes are caused by gain-of-function mutations of the RET proto-oncogene. Genotype-phenotype correlations exist that help predict the presence of other associated endocrine neoplasms as well as the timing of thyroid cancer development. Recognition of the clinical entity in individuals and families at risk of harboring a germline RET mutation is crucial for the management and prevention of associated malignancies. Recent guidelines released by the American Thyroid Association regarding the management of MTC will be summarized in this chapter.

MeSH terms

Adrenal Gland Neoplasms / diagnosis
Adrenal Gland Neoplasms / genetics
Adrenal Gland Neoplasms / therapy
Adrenalectomy
Carcinoma, Medullary / congenital
Carcinoma, Medullary / diagnosis
Carcinoma, Medullary / genetics
Carcinoma, Medullary / therapy
Carcinoma, Neuroendocrine
Enzyme Inhibitors / therapeutic use
Genetic Association Studies
Genetic Testing
Humans
Hyperparathyroidism, Primary / diagnosis
Multiple Endocrine Neoplasia Type 2a / diagnosis
Multiple Endocrine Neoplasia Type 2a / genetics*
Multiple Endocrine Neoplasia Type 2a / therapy
Multiple Endocrine Neoplasia Type 2b / genetics
Neoplasm Metastasis / diagnosis
Pheochromocytoma / diagnosis
Pheochromocytoma / genetics
Pheochromocytoma / therapy
Practice Guidelines as Topic
Protein-Tyrosine Kinases / antagonists & inhibitors
Proto-Oncogene Mas
Proto-Oncogene Proteins c-ret / genetics*
Thyroid Neoplasms / diagnosis
Thyroid Neoplasms / genetics
Thyroid Neoplasms / pathology
Thyroid Neoplasms / therapy

Substances

Enzyme Inhibitors
MAS1 protein, human
Proto-Oncogene Mas
Protein-Tyrosine Kinases
Proto-Oncogene Proteins c-ret

Supplementary concepts

Familial medullary thyroid carcinoma
Thyroid cancer, medullary