神经内分泌瘤
Neuroendocrine neoplasm
定义 英文原文（暂无中文）
A group of rare tumors characterized by predominantly neuroendocrine differentiation, potentially arising in most organs of the body, including the central nervous system, respiratory tract, larynx, gastrointestinal tract, thyroid, skin, breast, and urogenital system. The gastrointestinal tract and lungs are the most common primary tumor sites. Based on clinical behavior, histology, and proliferation rate, the tumors may be categorized as well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinomas. They may or may not be associated with clinical hormone hypersecretion syndromes.
基本事实
- 遗传方式
- 未知
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Norway）
相关基因 22来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| DLST | dihydrolipoamide S-succinyltransferase | ORPHA:29072 |
| DNMT3A | DNA methyltransferase 3 alpha | ORPHA:276621 |
| EPAS1 | endothelial PAS domain protein 1 | ORPHA:276621 |
| ESR2 | estrogen receptor 2 | ORPHA:99361 |
| FH | fumarate hydratase | ORPHA:29072 |
| KIF1B | kinesin family member 1B | ORPHA:29072 |
| MAX | MYC associated transcriptional regulator X | ORPHA:29072 |
| MDH2 | malate dehydrogenase 2 | ORPHA:29072 |
| NF1 | neurofibromin 1 | ORPHA:29072 |
| NTRK1 | neurotrophic receptor tyrosine kinase 1 | ORPHA:99361 |
| RB1 | RB transcriptional corepressor 1 | ORPHA:70573 |
| RET | ret proto-oncogene | ORPHA:99361 |
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | ORPHA:29072 |
| SDHAF2 | succinate dehydrogenase complex assembly factor 2 | ORPHA:29072 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | ORPHA:29072 |
| SDHC | succinate dehydrogenase complex subunit C | ORPHA:29072 |
| SDHD | succinate dehydrogenase complex subunit D | ORPHA:29072 |
| SLC25A11 | solute carrier family 25 member 11 | ORPHA:29072 |
| SMARCA4 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | ORPHA:370396 |
| TP53 | tumor protein p53 | ORPHA:70573 |
| TP73 | tumor protein p73 | ORPHA:70573 |
| VHL | von Hippel-Lindau tumor suppressor | ORPHA:29072 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）