乌维尔黑色素瘤呈现为肝转移在一个患有外皮黑色素细胞结合的病人
William I Evans1, Matthew W Wilson1,2, Armita Bahrami3
1Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis Tennessee.
Retinal cases & brief reports
|June 26, 2023
概括
眼皮黑色素细胞瘤会增加阴膜黑色素瘤的风险. 这一案例突出了一个16岁的年轻人,从未检测到的眼睛瘤中呈现出肝转移,强调需要警监测.
科学领域:
- 眼科医生 眼科 眼科
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 眼皮黑色素细胞病 (奥塔神经瘤) 是一种先天性疾病,与皮黑色素瘤的风险增加有关.
- 由于其转移潜力,早期检测阴道黑色素瘤至关重要.
研究的目的:
- 报告一个不寻常的隐形毛膜黑色素瘤病例.
- 黑色素瘤最初呈现出肝转移的症状.
- 这位患者同时患有眼皮黑色素细胞病.
主要方法:
- 一名16岁的男孩患有眼皮黑色素细胞瘤,出现腹痛和吐.
- 影像检查显示肝脏质量暗示转移性黑色素瘤.
- 眼科检查和高级成像证实了可疑的冠状腺质量,可疑为阴道黑色素瘤.
- 肝脏质量的基因检测发现了BAP1突变,证实了皮膜起源.
主要成果:
- 患者没有视力障碍或 afferent瞳孔缺陷.
- 眼科检查显示,右眼中有一个状质块.
- 诊断测试证实了带膜黑色素瘤与广泛的肝脏和其他转移性病变.
- 肝脏质量中的BAP1突变证实其起源于皮膜黑色素瘤.
结论:
- 眼皮黑色素细胞瘤是毛膜黑色素瘤和转移的重要危险因素.
- 转移性阴膜黑色素瘤的预后不好,治疗干预措施有限.
- 定期的眼科监测对于风险人群的早期检测至关重要.
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