Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Ocul Immunol Inflamm. 2021 Apr 3;29(3):485-489. doi: 10.1080/09273948.2020.1802488. Epub 2020 Sep 23.
To report a case of a patient whose mutation disappeared from the aqueous humor following treatment with intravitreal methotrexate.
A retrospective review of clinical, histopathological and imaging records.
A 49-year-old woman presented with bilateral primary vitreoretinal lymphoma confirmed by molecular and next-generation sequencing studies on vitreous biopsy samples. Initially, the L265P mutation was detected in aqueous samples of both eyes. Serial testing for L265P mutations performed on aqueous samples collected at the time of the weekly intravitreal methotrexate injections showed the mutation ceased to be detected after four weekly injections in the non-vitrectomized right eye and after two weekly injections in the vitrectomized left eye. Clinical improvement accompanied the negativization of the mutation in both eyes.
We present a case that demonstrates the possible utilization of serial testing for the L265P mutation as a tool for monitoring disease course in vitreoretinal lymphoma.
报告一例患者，其眼内液中的 突变在接受玻璃体内甲氨蝶呤治疗后消失。
对临床、组织病理学和影像学记录进行回顾性分析。
一名 49 岁女性因双侧原发性玻璃体视网膜淋巴瘤就诊，该诊断通过玻璃体活检样本的分子和下一代测序研究得到证实。最初，在双眼的眼内液样本中检测到 L265P 突变。对每周玻璃体内注射甲氨蝶呤时采集的眼内液样本进行的 L265P 突变连续检测显示，在未行玻璃体切割术的右眼，经过四次每周注射后，突变停止检测；在已行玻璃体切割术的左眼，经过两次每周注射后，突变停止检测。在双眼中，突变的阴性化伴随着临床改善。
我们报告了一例病例，该病例表明，连续检测 L265P 突变可作为监测玻璃体视网膜淋巴瘤病程的一种工具。
