孤立性纤维瘤/血管外皮细胞瘤
Solitary fibrous tumor
ORPHA:2126疾病
定义 英文原文（暂无中文）
A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. NAB2-STAT6 gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features.
别名
SFT/HPC
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| STAT6 | signal transducer and activator of transcription 6 | Part of a fusion gene in |
| NAB2 | NGFI-A binding protein 2 | Part of a fusion gene in |
临床表型 29
偶见 29–5%6
- 疲乏 HP:0012378
- 生殖器肿瘤 HP:0010787
- 胸膜肿瘤 HP:0100527
- 肿瘤 HP:0002664
- 软组织肿瘤 HP:0031459
- 体重减轻 HP:0001824
罕见 <4–1%23
- 纵隔形态异常 HP:0045026
- 前列腺形态异常 HP:0008775
- 前额异常 HP:0000290
- 腹膜形态异常 HP:0002585
- 便秘 HP:0002019
- 复视 HP:0000651
- 发热 HP:0001945
- 低血糖 HP:0001943
- 低胰岛素血症 HP:0040216
- 低磷性佝偻病 HP:0004912
- 意识丧失 HP:0007185
- 下背部疼痛 HP:0003419
- 肝脏肿瘤 HP:0002896
- 肺部肿瘤 HP:0100526
- 神经系统的肿瘤 HP:0004375
- 盗汗 HP:0030166
- 盆腔肿块 HP:0031501
- 前列腺癌 HP:0012125
- 反复发作性低血糖 HP:0001988
- C-肽水平降低 HP:0030795
- 尿潴留 HP:0000016
- 子宫肿瘤 HP:0010784
- 阴道肿瘤 HP:0100650
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）