| 多内分泌腺瘤病研究进展 |
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| 引用本文： | 李小英. 多内分泌腺瘤病研究进展[J]. 上海交通大学学报(医学版), 2006, 26(1): 5-9 |
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| 作者姓名： | 李小英 |
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| 作者单位： | 上海交通大学医学院瑞金医院内分泌代谢病科,上海市内分泌代谢病临床医学中心,上海市内分泌研究所,上海,200025 |
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| 摘 要： | 多内分泌腺瘤病1型(MEN1)发生的重要原因是MEN1基因突变,导致肿瘤细胞11号染色体不同程度的杂合缺失,menin蛋白消失,临床主要表现有甲状旁腺腺瘤、胃肠胰腺内分泌肿瘤和垂体前叶瘤。多内分泌腺瘤病2型(MEN2)主要由原癌基因RET突变所致,又分为MEN2A和MEN2B,临床表现为甲状腺髓样癌、嗜铬细胞瘤、甲状旁腺增生和黏膜神经纤维瘤。RET基因突变类型有一定的规律性,即基因型和表现型之间有非常好的相关性。本文将主要介绍MEN1和MEN2发生机制方面的最新研究进展。
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| 关 键 词： | MEN1 MEN2 MEN1基因 RET基因 杂合缺失 |
| 文章编号： | 0258-5898(2006)01-0005-05 |
| 收稿时间： | 2005-10-27 |
| 修稿时间： | 2005-10-27 |
Advances of the Research on Multiple Endocrine Neoplasia |
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| LI Xiao-ying. Advances of the Research on Multiple Endocrine Neoplasia[J]. Journal of Shanghai Jiaotong University:Medical Science, 2006, 26(1): 5-9 |
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| Authors: | LI Xiao-ying |
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| Affiliation: | Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China |
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| Abstract: | Multiple endocrine neoplasia (MEN) includes MEN1 and MEN2. MEN1 gene mutations have been identified in familial and some sporadic MEN1 patients. Loss of heterozygosity at chromosome 11q13 and menin degradation occur in endocrine tumor cells. MEN1 is characterized by parathyroid adenoma, gastroenteropancreatic (GEP) and anterior pituitary tumors. MEN2A and MEN2B are characterized by medullar thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia and mucosa neurofibroma, respectively. RET gene mutation results in receptor tyrosine kinase activation in endocrine-related tumors. Genotype correlates well with phenotype in MEN2.Advances of the research on mechanism of MEN is briefly introduced in this review. |
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| Keywords: | MEN1 MEN2 MEN1 gene RET gene loss of heterozygosity |
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