J Korean Thyroid Assoc.  2012 Nov;5(2):124-131. 10.11106/jkta.2012.5.2.124.

Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma

• Choi YS

• KMID: 2095101
• DOI: http://doi.org/10.11106/jkta.2012.5.2.124

Abstract

Multiple endocrine neoplasia (MEN) is defined as a disorder with neoplasms in two or more different hormonal tissues in several members of a family. MEN1, or Wermer's syndrome, is inherited as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance. Inherited medullary thyroid carcinoma (MTC) consists of MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). The identification of hereditary MTC has been facilitated in recent years by direct analysis of germline RET proto-oncogene mutation.

Keyword

Multiple endocrine neoplasia; Familial medullary thyroid carcinoma

MeSH Terms

Carcinoma, Medullary
Humans
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Neuroendocrine Tumors
Parathyroid Glands
Penetrance
Pituitary Neoplasms
Proto-Oncogenes
Thyroid Gland
Thyroid Neoplasms
Carcinoma, Medullary
Multiple Endocrine Neoplasia Type 2a
Thyroid Neoplasms

Figure

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  Fig. 1 A case of MEN2B with mucosal neuromas (A, B) and pheochromocytoma (C, arrows). Marked distension of the ascending and transverse colon (short arrow) and enlargement of right adrenal gland with multifocal low attenuation (long arrow) are noted. A RET protooncogene germline mutation in codon 918, exon 16 (D). Figures adapted from Kim et al.17)

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  Fig. 2 RET tyrosine kinase receptor mutations in MEN2, FMTC and sporadic MTC. FMTC: familial medullary thyroid cancer, HSCR: Hirschsprung disease, MEN: multiple endocrine neoplasia, SMTC: sporadic medullary thyroid cancer. Figure adapted from de Groot et al.20)

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  Fig. 3 Multistep process for MEN2 genetic testing. Figure adapted from Eng et al.24)

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