Multiple Endocrine Neoplasia

TY - CHAP

T1 - Multiple Endocrine Neoplasia

AU - Newey, Paul J.

AU - Thakker, Rajesh V.

N1 - Publisher Copyright: © 2020 RELX India Pvt. Ltd. Published by null All rights reserved.

PY - 2020/8/9

Y1 - 2020/8/9

N2 - Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. The disorder has previously been referred to as multiple endocrine adenopathy or pluriglandular syndrome. However, glandular hyperplasia and malignancy may also occur in some patients, and the term multiple endocrine neoplasia is now preferred. Four major forms of MEN—MEN types 1 through 4—are recognized, and each form is characterized by the development of tumors within specific endocrine glands. All of these forms of MEN may be inherited as autosomal dominant disorders or may occur sporadically in the absence of a family history. However, this distinction between sporadic and familial cases may sometimes be difficult, as in some sporadic cases a familial history may be absent because the patient with the disease may have died before symptoms developed. In addition to MEN types 1 through 4, six other syndromes, which are associated with tumors involving one or more of the endocrine glands as well as nonendocrine organs, have been reported. These include hyperparathyroidism-jaw tumor syndrome, Von-Hippel Lindau disease, Carney complex, neurofibromatosis type 1, Cowden syndrome, and McCune-Albright syndrome; all of these may be inherited as autosomal dominant disorders, except MAS, which is due to a mosaic expression of a postzygotic somatic cell mutation. This chapter will focus on describing the major clinical and molecular aspects of MEN type 1 through 4 syndromes.

AB - Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. The disorder has previously been referred to as multiple endocrine adenopathy or pluriglandular syndrome. However, glandular hyperplasia and malignancy may also occur in some patients, and the term multiple endocrine neoplasia is now preferred. Four major forms of MEN—MEN types 1 through 4—are recognized, and each form is characterized by the development of tumors within specific endocrine glands. All of these forms of MEN may be inherited as autosomal dominant disorders or may occur sporadically in the absence of a family history. However, this distinction between sporadic and familial cases may sometimes be difficult, as in some sporadic cases a familial history may be absent because the patient with the disease may have died before symptoms developed. In addition to MEN types 1 through 4, six other syndromes, which are associated with tumors involving one or more of the endocrine glands as well as nonendocrine organs, have been reported. These include hyperparathyroidism-jaw tumor syndrome, Von-Hippel Lindau disease, Carney complex, neurofibromatosis type 1, Cowden syndrome, and McCune-Albright syndrome; all of these may be inherited as autosomal dominant disorders, except MAS, which is due to a mosaic expression of a postzygotic somatic cell mutation. This chapter will focus on describing the major clinical and molecular aspects of MEN type 1 through 4 syndromes.

KW - genetic testing

KW - medullary thyroid cancer

KW - menin

KW - pancreatic neuroendocrine tumors

KW - receptor tyrosine kinase inhibitors

KW - RET

UR - https://www.scopus.com/pages/publications/105032964266

U2 - 10.1016/B978-81-312-6215-3.00042-6

DO - 10.1016/B978-81-312-6215-3.00042-6

M3 - Chapter

AN - SCOPUS:105032964266

SN - 9788131262160

VL - 1-2

SP - 1622

EP - 1657

BT - Williams Textbook of Endocrinology, 14 Edition

A2 - Awadhesh Kumar, Singh

PB - Elsevier

CY - India

ER -