患有囊细胞形成症的患者的眼部发现,以及与临床和分子特征的关联
Jasmine H Francis1,2, Anne S Reiner3, Julia Canestraro4
1Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA francij1@mskcc.org.
The British journal of ophthalmology
|May 24, 2024
概括
眼部表现是常见的histiocytosis,根据亚型而异. 虽然眼部疾病经常表现出症状和其他器官参与,但像BRAF V600E这样的特定基因突变与其存在无关.
科学领域:
- 眼科医生 眼科 眼科
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
背景情况:
- 目的表现和基因因素在囊细胞形成并没有很好地理解.
- 囊细胞病包括一组罕见的疾病,其特点是囊细胞的异常增殖.
研究的目的:
- 为了表征受囊细胞形成影响的眼部部位.
- 为了识别与眼球细胞瘤相关的遗传变化.
- 为了将眼部发现与囊细胞分裂亚型和临床特征相关联.
主要方法:
- 一项基于注册的前性研究包括90名成年囊细胞病患者 (180只眼睛).
- 患者被诊断出患有各种类型的囊细胞分裂,包括埃尔德海姆-切斯特病,罗莎-多夫曼病和兰格汉斯细胞囊细胞分裂 (LCH).
- 眼部发现被分类,并与囊细胞瘤亚型,疾病部位和遗传状态 (BRAF V600E,MAP2K1,RAS) 进行了相关性.
主要成果:
- 超过一半的患者出现了眼部疾病,通常与其他受影响的部位一起发生.
- 眼部发现在囊细胞分裂亚型之间有显著差异;LCH的发病率最低 (7%),而其他患者的发病率高出五倍 (p=0.0009).
- 41%的患者报告了眼部症状. 根据BRAF V600E,MAP2K1或RAS突变,没有观察到眼部发现的统计差异.
结论:
- 眼部疾病是囊细胞形成的常见并发症,与显著的视觉症状和多系统参与有关.
- 眼部发现显示了根据特定的囊细胞瘤亚型的变异性.
- 该研究发现,在这个队列中,没有特定的驱动突变与眼部疾病直接相关.
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