Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma

Young Sik Choi

doi:10.11106/jkta.2012.5.2.124

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Choi: Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma

Review Article

Journal of Korean Thyroid Association

Journal of Korean Thyroid Association 2012; 5(2): 124-131.

Published online: 28 November 2012

DOI: https://doi.org/10.11106/jkta.2012.5.2.124

Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma

Young Sik Choi

Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea.

Correspondence: Young Sik Choi, MD, Department of Internal Medicine, Kosin University College of Medicine, 34 Amnam-dong, Seo-gu, Busan 602-702, Korea. Tel: 82-51-990-6102, Fax: 82-51-248-5686, yschoi@kosinmed.or.kr

Received 7 March 2012 Revised 18 May 2012 Accepted 21 May 2012

(open-access):

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Multiple endocrine neoplasia, Familial medullary thyroid carcinoma

Figures and Tables

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)

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)

Fig. 3

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

Table 1

Expressions of MEN1 with estimated penetrance (in parentheses) at age 40 yr

NF: nonfunction. Data were adapted from Brandi et al.1)

Table 2

A representative program of tests and test schedules to screen for tumor expression in a highly likely carrier of MEN1 mutation (identified from MEN1 mutation or other criteria)

Data were adapted from Brandi et al.1)

Table 3

Clinical subtypes of MEN2

FMTC: familial medullary thyroid carcinoma without MEN, HPTH: hyperparathyroidism, MEN: multiple endocrine neoplasia, MTC: medullary thyroid carcinoma, PHEO: pheochromocytoma. Data were adapted from Eng.13)

Table 4

Genotype and phenotype correlation in MEN2

Table 5

Clinical syndromes associated with MTC

Data were adapted from Bachelot et al.22)

Table 6

American Thyroid Association risk level and prophylactic thyroidectomy testing and therapy

Data were adapted from Kloos et al.23)

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