Guinard Caroline Alice, He Bonnie, Sawires Korolos, Zaki Amr M, Gupta R Rishi, Pasternak Sylvia
Department of Pathology and Laboratory Medicine, Queen Elizabeth II Health Science Centre, Halifax, NS, Canada.
Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Ocul Oncol Pathol. 2025 Apr 14:1-6. doi: 10.1159/000545823.
Primary vitreoretinal lymphomas (PVRL) are a type of central nervous system lymphoma that arise in the retina, vitreous, or optic nerve without initial brain involvement. The clinical diagnosis can be a challenge since the disease mimics uveoretinitis in its presentation and initial treatment response to steroids. Diagnostic confirmation with vitreous cytology has been the gold standard for diagnosis. However, there are limitations of vitreous cytology, such as low volume of sample, low number of lymphoma cells within the sample, and poor preservation of cells due to shearing forces of vitrectomy. There has been a long-standing need for alternative options to improve the diagnostic yield of PVRLs. Recently, MYD88 gene mutations (myeloid differentiation response gene 88) have been found in 69-82.4% of PVRLs.
Case 1: a 89-year-old male presented with a retinal detachment post cataract surgery. He had subsequent surgical repair but continued to have poor and worsening vision and developed constitutional symptoms, including weight loss and decreased appetite. A vitreous sample submitted for molecular studies demonstrated the MYD88 L265P mutation, and a retinal biopsy showed large B lymphocytes infiltrating the retina. Case 2: a 62-year-old female was referred to the Uveitis Clinic for assessment of chronic right eye panuveitis and left eye anterior uveitis. The patient developed symptoms (blurry vision and photophobia) 9 months prior to the referral. A vitreous biopsy was conducted and was negative for MYD88 mutations, and large B cells were not seen on vitreous cytology. The fundus view post-vitrectomy revealed an area of necrotizing retinitis. The patient was started on empiric treatment for herpetic and parasitic etiologies and on high-dose oral prednisone shortly after. She had a further decline in her right eye vision with significant extension of the necrotizing retinitis into the macula and optic disc. A retinal biopsy then revealed atypical large B cells infiltrating the retina.
PVRLs are rare, and establishing the diagnosis is difficult. The traditional use of vitreous cytology has its limitations. Recent molecular advances, in particular the detection of MYD88 mutation, are extremely helpful in confirming the diagnosis, but in certain cases, retinal biopsies may still be required.
原发性玻璃体视网膜淋巴瘤（PVRL）是一种中枢神经系统淋巴瘤，起源于视网膜、玻璃体或视神经，最初不累及脑部。临床诊断可能具有挑战性，因为该疾病在表现和对类固醇的初始治疗反应方面类似于葡萄膜炎。玻璃体细胞学诊断一直是诊断的金标准。然而，玻璃体细胞学存在局限性，例如样本量少、样本中淋巴瘤细胞数量少以及由于玻璃体切除术的剪切力导致细胞保存不佳。长期以来一直需要替代方法来提高PVRL的诊断率。最近，在69%-82.4%的PVRL中发现了MYD88基因突变（髓样分化反应基因88）。
病例1：一名89岁男性在白内障手术后出现视网膜脱离。他随后接受了手术修复，但视力持续不佳且不断恶化，并出现了全身症状，包括体重减轻和食欲下降。提交进行分子研究的玻璃体样本显示存在MYD88 L265P突变，视网膜活检显示有大量B淋巴细胞浸润视网膜。病例2：一名62岁女性因慢性右眼全葡萄膜炎和左眼前部葡萄膜炎被转诊至葡萄膜炎诊所进行评估。患者在转诊前9个月出现症状（视力模糊和畏光）。进行了玻璃体活检，结果显示MYD88突变阴性，玻璃体细胞学检查未发现大B细胞。玻璃体切除术后的眼底检查显示有坏死性视网膜炎区域。患者开始接受针对疱疹和寄生虫病因的经验性治疗，并在不久后开始服用高剂量口服泼尼松。她的右眼视力进一步下降，坏死性视网膜炎显著扩展至黄斑和视盘。随后的视网膜活检显示有非典型大B细胞浸润视网膜。
PVRL很罕见，确诊困难。传统的玻璃体细胞学检查有其局限性。最近的分子进展，特别是MYD88突变的检测，对确诊非常有帮助，但在某些情况下，仍可能需要进行视网膜活检。
