Multiple endocrine neoplasias.
Multiple endocrine neoplasia type 1 (MEN 1), and the multiple endocrine neoplasia type 2 syndromes (MEN 2A, MEN 2B, and familial non-MEN medullary thyroid carcinoma [FMTC]) encompass a wide range of endocrine problems, but arise from only two genes: the MEN 1 tumor suppressor gene and the RET proto-oncogene. MEN 1 is characterized by parathyroid hyperplasia, pancreaticoduodenal neuroendocrine tumors (PNTs), and pituitary adenomas. Surgery is the principal treatment modality for hyperparathyroidism and PNTs, but questions still remain concerning the timing and extent of surgery for PNTs. The MEN 2 syndromes are characterized by complete penetrance of medullary thyroid cancer. The MEN 2 syndromes differ in their variable expression of hyperparathyroidism, pheochromocytomas, and other clinical features. Genetic testing for mutations in the RET gene has revolutionized treatment by enabling thyroidectomies before significant disease occurs.
Phay
J E
JE
Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
Moley
J F
JF
Lairmore
T C
TC
D000236:Adenoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D015972:Gene Expression Regulation, Neoplastic; D016147:Genes, Tumor Suppressor / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology; D009377:Multiple Endocrine Neoplasia / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010673:Pheochromocytoma / Q000209:etiology; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes / Q000235:genetics; D013961:Thyroid Gland / Q000601:surgery; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy