Henry Terry A, Ebert Jared J, Di Nicola Maura, Nerad Jeffrey A, Williams Basil K
Meharry Medical College, Nashville, TN, USA.
Ocular Oncology Service, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Am J Ophthalmol Case Rep. 2023 May 27;31:101862. doi: 10.1016/j.ajoc.2023.101862. eCollection 2023 Sep.
To describe an atypical case of a choroidal melanoma presenting with eyelid edema, chemosis, pain and diplopia and demonstrating significant extraocular extension on ultrasonography and neuroimaging.
A 69-year-old woman presented with a headache, eyelid edema, chemosis and pain in the right eye. Upon subsequent onset of diplopia, MRI of the orbits was performed and demonstrated a predominantly extraocular, intraconal mass with a small intraocular component. She was started on corticosteroids and referred to the ocular oncology service for evaluation. On fundus examination, she was noted to have a pigmented choroidal lesion consistent with melanoma, and ultrasound showed a large area of extraocular extension. Enucleation, enucleation with subsequent radiation and exenteration were discussed, and the patient requested an opinion from radiation oncology. A repeat MRI obtained by radiation oncology demonstrated a decrease in the extraocular component after corticosteroid treatment. The improvement was interpreted as suggestive of lymphoma by the radiation oncologist who recommended external beam radiation (EBRT). Fine needle aspiration biopsy was insufficient for cytopathologic diagnosis, and the patient elected to proceed with EBRT in the absence of a definitive diagnosis. Next generation sequencing revealed GNA11 and SF3B1 mutations, which supported the diagnosis of uveal melanoma and led to enucleation.
Choroidal melanoma may present with pain and orbital inflammation secondary to tumor necrosis, which may delay diagnosis and decrease the diagnostic yield of fine-needle aspiration biopsy. Next generation sequencing may aid the diagnosis of choroidal melanoma when there is clinical uncertainty and cytopathology is unavailable.
描述一例脉络膜黑色素瘤的非典型病例，该病例表现为眼睑水肿、结膜水肿、疼痛和复视，超声检查和神经影像学检查显示有明显的眼外扩展。
一名69岁女性因头痛、右眼眼睑水肿、结膜水肿和疼痛就诊。随后出现复视，遂行眼眶MRI检查，显示主要为眼外、肌锥内肿块，伴有小的眼内成分。她开始接受皮质类固醇治疗，并转诊至眼科肿瘤服务部门进行评估。眼底检查发现她有一个与黑色素瘤相符的色素性脉络膜病变，超声显示有大面积的眼外扩展。讨论了眼球摘除术、眼球摘除术后放疗和眶内容剜除术，患者请求放射肿瘤学专家提供意见。放射肿瘤学专家再次进行的MRI检查显示，皮质类固醇治疗后眼外成分减少。放射肿瘤学专家将这种改善解释为提示淋巴瘤，建议进行外照射放疗（EBRT）。细针穿刺活检不足以进行细胞病理学诊断，在没有明确诊断的情况下，患者选择进行EBRT。二代测序显示GNA11和SF3B1突变，支持葡萄膜黑色素瘤的诊断，最终进行了眼球摘除术。
脉络膜黑色素瘤可能因肿瘤坏死而出现疼痛和眼眶炎症，这可能会延迟诊断并降低细针穿刺活检的诊断率。当临床存在不确定性且无法进行细胞病理学检查时，二代测序可能有助于脉络膜黑色素瘤的诊断。
