Department of Family and Community Medicine, University of Nevada Reno School of Medicine, 745 West Moana Lane, Reno, NV 89509, USA.
Prim Care. 2024 Sep;51(3):483-494. doi: 10.1016/j.pop.2024.03.006. Epub 2024 May 23.
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.
多发性内分泌腺瘤 1 型是一种罕见的遗传性神经内分泌综合征，由超过 1500 种不同的种系突变引起。它可导致 20 种不同的内分泌肿瘤，主要影响甲状旁腺、胃肠胰神经内分泌肿瘤和垂体前叶。多发性内分泌腺瘤 2A 型（MEN2A）和多发性内分泌腺瘤 2B 型（MEN2B）是常染色体显性遗传综合征，因为“转染过程中重排”（RET）原癌基因的种系变异。常见的 RET 突变导致受体过度激活和下游信号的诱导，从而导致肿瘤发生。MEN2A 的常见病症包括甲状腺髓样癌（MTC）、嗜铬细胞瘤和原发性甲状旁腺功能亢进症。MEN2B 的常见病症包括 MTC、嗜铬细胞瘤和良性神经节细胞瘤。
