Multiple endocrine neoplasia type 2

Fam Cancer. 2005;4(1):25-36. doi: 10.1007/s10689-005-0656-y.

Abstract

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited cancer syndrome. Predisposition to MEN 2 is caused by germline mutations of the RET proto-oncogene on chromosome 10q11.2 [1]. There are three clinically distinct forms of MEN 2 syndrome -- MEN 2A, familial medullary thyroid carcinoma (FMTC), and MEN 2B. In all of these subtypes, medullary thyroid carcinoma (MTC) is a key. MEN 2A is the most common subtype of MEN 2. Clinical features of the MEN 2A syndrome include medullary thyroid carcinoma (MTC) and/or C-cell hyperplasia (CCH) in almost all affected individuals, pheochromocytoma (approximately 50%) and hyperparathyroidism (HPT) (15-30%). MEN type 2B is the most aggressive of the MEN 2 variants and accounts for approximately 5% of all cases of MEN 2. MEN 2B is similar to MEN 2A but is characterized by the earlier onset of the disease and by developmental abnormalities. In FMTC, the third form of MEN 2, MTC is the only clinical feature. Introduced in recent years and still developing genetic testing of individuals at highest hereditary risk of MEN 2 syndrome holds the possibility of early detection and improved treatment and prognosis.

Publication types

  • Review

MeSH terms

  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / physiopathology
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Hyperparathyroidism / genetics
  • Hyperparathyroidism / physiopathology
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Multiple Endocrine Neoplasia Type 2a / physiopathology*
  • Oncogene Proteins / genetics
  • Pheochromocytoma / genetics
  • Pheochromocytoma / physiopathology
  • Prognosis
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / physiopathology

Substances

  • MAS1 protein, human
  • Oncogene Proteins
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • Receptor Protein-Tyrosine Kinases