Biomaterial Database

[Multiple endocrine neoplasia type 2a and 2b]. 1996

P Vestergaard

Multiple endocrine neoplasia type 2a and 2b (MEN 2a and 2b) are rare diseases, inherited as autosomal dominant traits. The neoplasias in MEN 2a are medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. In MEN 2b a characteristic phenotype is seen in combination with medullary thyroid carcinoma and pheochromocytoma. Through screening the diseases can be detected at an early stage, hereby improving prognosis. This is important as the diseases are inherited and occur in young individuals. In this review, epidemiology, clinical features, diagnosis and treatment are discussed.

UI	MeSH Term	Description	Entries
D010673	Pheochromocytoma	A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)	Pheochromocytoma, Extra-Adrenal,Extra-Adrenal Pheochromocytoma,Extra-Adrenal Pheochromocytomas,Pheochromocytoma, Extra Adrenal,Pheochromocytomas,Pheochromocytomas, Extra-Adrenal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013964	Thyroid Neoplasms	Tumors or cancer of the THYROID GLAND.	Cancer of Thyroid,Thyroid Cancer,Cancer of the Thyroid,Neoplasms, Thyroid,Thyroid Adenoma,Thyroid Carcinoma,Adenoma, Thyroid,Adenomas, Thyroid,Cancer, Thyroid,Cancers, Thyroid,Carcinoma, Thyroid,Carcinomas, Thyroid,Neoplasm, Thyroid,Thyroid Adenomas,Thyroid Cancers,Thyroid Carcinomas,Thyroid Neoplasm
D018276	Carcinoma, Medullary	A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)	Carcinomas, Medullary,Medullary Carcinoma,Medullary Carcinomas
D018813	Multiple Endocrine Neoplasia Type 2a	A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.	MEN 2,MEN 2a,Neoplasia, Multiple Endocrine Type 2a,Neoplasms, Multiple Endocrine Type 2a,Sipple Syndrome,MEA 2a,MEA II,MEA IIa,MEN II,MEN IIa,MEN-2A Syndrome,MEN2a,Multiple Endocrine Neoplasia Type 2,Multiple Endocrine Neoplasia, Type IIa,Multiple Endocrine Neoplasms Type 2a,Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma,MEN 2A Syndrome,MEN-2A Syndromes,Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
D018814	Multiple Endocrine Neoplasia Type 2b	Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.	MEN 2b,MEN 3,Neoplasia, Multiple Endocrine Type 2b,Neoplasms, Multiple Endocrine Type 2b,MEA 2b,MEA IIb,MEN III,MEN IIb,MEN2b,Mucosal Neuroma Syndrome,Multiple Endocrine Neoplasia, Type 2b,Multiple Endocrine Neoplasia, Type IIb,Multiple Endocrine Neoplasms Type 2b,Neuromata, Mucosal, With Endocrine Tumors,Wagenmann-Froboese Syndrome,Mucosal Neuroma Syndromes,Neuroma Syndrome, Mucosal,Syndrome, Wagenmann-Froboese,Wagenmann Froboese Syndrome