Everett Lesley, Damato Bertil E, Bloomer Michele M, Palmer James D, Kao Andrew A, Stewart Jay M, Afshar Armin R
Department of Ophthalmology, University of California, San Francisco, California, USA.
Northern California Retina-Vitreous Associates, Mountain View, California, USA.
Ocul Oncol Pathol. 2019 Feb;5(2):135-138. doi: 10.1159/000488708. Epub 2018 Aug 8.
To report a case of metastatic cutaneous melanoma presenting with choroidal metastasis simulating primary uveal melanoma.
Case report.
Presentation of clinical, radiographic, histopathologic, and tumor genetic findings in a patient with cutaneous melanoma with choroidal metastasis.
A 50-year-old man with a remote history of stage 1A cutaneous melanoma presented with eye pain, peripheral vision loss, floaters, red eye, and choroidal mass that was originally diagnosed as a primary uveal melanoma at an outside institution; however, subsequent imaging and clinical evaluation demonstrated that this choroidal mass was the first manifestation of widely metastatic cutaneous melanoma (liver, pancreas, lung, bone, brain, and orbit lesions). Histopathologic analysis of the tumor after enucleation was consistent with cutaneous melanoma, and tumor genetic testing was positive for V600E mutation, confirming the choroidal lesion to be a cutaneous melanoma metastasis rather than a primary choroidal melanoma.
Metastatic cutaneous melanoma to the orbit or globe occurs rarely. Tumor genetic testing may help differentiate metastatic cutaneous melanoma from primary uveal melanoma in cases where the diagnosis is uncertain, and can also inform therapy and prognostic counseling.
报告一例转移性皮肤黑色素瘤表现为脉络膜转移，酷似原发性葡萄膜黑色素瘤。
病例报告。
呈现一例皮肤黑色素瘤伴脉络膜转移患者的临床、影像学、组织病理学及肿瘤遗传学检查结果。
一名有1A期皮肤黑色素瘤既往史的50岁男性，出现眼痛、周边视力丧失、飞蚊症、眼红及脉络膜肿物，在外院最初被诊断为原发性葡萄膜黑色素瘤；然而，后续影像学及临床评估显示，该脉络膜肿物是广泛转移的皮肤黑色素瘤（肝脏、胰腺、肺、骨、脑及眼眶病变）的首发表现。眼球摘除术后肿瘤的组织病理学分析结果与皮肤黑色素瘤相符，肿瘤基因检测V600E突变呈阳性，证实脉络膜病变为皮肤黑色素瘤转移而非原发性脉络膜黑色素瘤。
皮肤黑色素瘤转移至眼眶或眼球极为罕见。在诊断不明确的病例中，肿瘤基因检测有助于鉴别转移性皮肤黑色素瘤与原发性葡萄膜黑色素瘤，还可为治疗及预后咨询提供依据。
