关键词: MEN 1 MEN 2A MEN 2B Multiple endocrine neoplasia

Mesh : Humans Proto-Oncogene Mas Multiple Endocrine Neoplasia Type 2a / diagnosis genetics therapy Multiple Endocrine Neoplasia Type 2b / diagnosis genetics Thyroid Neoplasms / genetics diagnosis therapy Pheochromocytoma / diagnosis genetics therapy Multiple Endocrine Neoplasia Type 1 / diagnosis therapy genetics Proto-Oncogene Proteins c-ret / genetics Adrenal Gland Neoplasms / diagnosis genetics therapy Hyperparathyroidism, Primary / diagnosis therapy Primary Health Care Germ-Line Mutation Carcinoma, Neuroendocrine

来  源:   DOI:10.1016/j.pop.2024.03.006

Abstract:
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.
摘要:
1型多发性内分泌瘤是由超过1500种不同种系突变引起的罕见遗传性神经内分泌综合征。它可以引起20种不同的内分泌肿瘤,主要影响甲状旁腺,胃肠胰道,和垂体前叶.2A型多发性内分泌瘤(MEN2A)和2B型多发性内分泌瘤(MEN2B)是常染色体显性遗传综合征,因为在转染期间重排的原癌基因中存在种系变异。存在引起受体过度活化和引起肿瘤发生的下游信号的诱导的常见RET突变。MEN2A的常见病症是甲状腺髓样癌(MTC),嗜铬细胞瘤,和原发性甲状旁腺功能亢进.MEN2B的常见条件包括MTC,嗜铬细胞瘤,和良性神经节神经瘤.
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