Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
| Autor: | Greenberg LA; Department of Family and Community Medicine, University of Nevada Reno School of Medicine, 745 West Moana Lane, Reno, NV 89509, USA. Electronic address: lgreenberg@med.unr.edu. |
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| Jazyk: | angličtina |
| Zdroj: | Primary care [Prim Care] 2024 Sep; Vol. 51 (3), pp. 483-494. Date of Electronic Publication: 2024 May 23. |
| DOI: | 10.1016/j.pop.2024.03.006 |
| Abstrakt: | Multiple endocrine neoplasia type 1 is a rare genetic neuroendocrine syndrome caused by over 1500 different germline mutations. It can cause 20 different endocrine tumors affecting primarily the parathyroid glands, gastroenteropancreatic tract, and the anterior pituitary gland. Multiple endocrine neoplasia type 2A (MEN2A) and Multiple endocrine neoplasia type 2B (MEN2B) are autosomal dominant genetic syndromes because of a germline variant in the 'rearranged during transfection' (RET) proto-oncogene. There are common RET mutations causing receptor hyperactivation and induction of downstream signals that cause oncogenesis. Common conditions with MEN2A are medullary thyroid cancer (MTC), pheochromocytoma, and primary hyperparathyroidism. Common conditions with MEN2B include MTC, pheochromocytomas, and benign ganglioneuromas. Competing Interests: Disclosure L.A. Greenberg has no commercial or financial conflicts of interest and no funding sources. (Published by Elsevier Inc.) |
| Databáze: | MEDLINE |
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