对一个具有全基因组加倍和一个突变的大的葡萄膜黑色素瘤进行二代测序。
Next-generation sequencing of a large uveal melanoma with whole genome doubling and a mutation.
作者信息
Ahmad Tessnim R, Pekmezci Melike, Bloomer Michele M, Grenert James P, Afshar Armin R
机构信息
Department of Ophthalmology, Wayne & Gladys Valley Center for Vision, University of California San Francisco, San Francisco, CA, USA.
Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
出版信息
Am J Ophthalmol Case Rep. 2023 May 27;31:101861. doi: 10.1016/j.ajoc.2023.101861. eCollection 2023 Sep.
PURPOSE
To report a large uveal melanoma with extra-scleral extension which underwent spontaneous infarction and its unique molecular signature profile.
OBSERVATIONS
An 81-year-old female presented with a blind, painful eye. Intraocular pressure was 48 mm Hg. There was a large subconjunctival melanotic mass overlying a choroidal melanoma with anterior extension involving the ciliary body and the iridocorneal angle and iris. Ultrasonography confirmed a dome-shaped anterior cilio-choroidal mass with extra-scleral extension. The patient underwent enucleation and pathologic evaluation confirmed cilio-choroidal melanoma. The posterior half of the tumor involving the ciliary body and the extra-scleral component were spontaneously infarcted and were composed of large melanophages. Next-generation sequencing demonstrated a splice site mutation in and whole-genome doubling in addition to a hotspot mutation, chromosome 3 loss and 8q gain.
CONCLUSIONS AND IMPORTANCE
This case of a large, auto-infarcted uveal melanoma demonstrates a mutation and whole-genome doubling.
目的
报告一例伴有巩膜外扩展的大型葡萄膜黑色素瘤，其发生了自发性梗死及其独特的分子特征谱。
观察结果
一名81岁女性因失明且疼痛的眼睛就诊。眼压为48毫米汞柱。结膜下有一个大的黑色素肿物，覆盖脉络膜黑色素瘤，向前延伸累及睫状体、虹膜角膜角和虹膜。超声检查证实为穹窿状前睫状体脉络膜肿物，伴有巩膜外扩展。患者接受了眼球摘除术，病理评估证实为睫状体脉络膜黑色素瘤。肿瘤累及睫状体的后半部分和巩膜外成分发生了自发性梗死，由大的噬黑素细胞组成。二代测序显示除了一个热点突变、3号染色体缺失和8q增益外，还有一个剪接位点突变和全基因组加倍。
结论与意义
这例大型自发性梗死的葡萄膜黑色素瘤病例显示出一个突变和全基因组加倍。
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