NUT中线癌
NUT midline carcinoma
ORPHA:443167疾病
定义 英文原文（暂无中文）
A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.
别名
NMC
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NUTM1 | NUT midline carcinoma family member 1 | Part of a fusion gene in |
| BRD4 | bromodomain containing 4 | Part of a fusion gene in |
临床表型 9
极常见 99–80%1
- 肿瘤 HP:0002664
常见 79–30%7
- 纵隔形态异常 HP:0045026
- 尤文肉瘤 HP:0012254
- 白血病 HP:0001909
- 神经母细胞瘤 HP:0003006
- 口咽部鳞状细胞癌 HP:0012182
- 胰母细胞瘤 HP:0100757
- 鳞状细胞癌 HP:0002860
偶见 29–5%1
- 胰腺鳞状细胞癌 HP:0012142
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）