Prager Alisa J, Habib Larissa A, Busam Klaus J, Marr Brian P
Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Ocul Oncol Pathol. 2018 Nov;4(6):355-358. doi: 10.1159/000486682. Epub 2018 Mar 2.
Multifocal uveal melanomas are extremely rare. In this case report, we describe a patient with 2 independent uveal melanomas in the same eye. A 52-year-old woman presented with a large choroidal melanoma and a smaller ciliary body mass, clinically thought to be a nevus, in her left eye. Enucleated specimen showed 2 primary lesions that were anatomically separate. Lesion 1 was a melanoma and lesion 2 was a melanoma arising centrally from a nevus. Both lesions harbored GNAQ mutations. This patient had no family history of uveal melanomas or signs of ocular melanocytosis and was negative for the BAP1 mutation. This case demonstrates how multifocal uveal melanomas can arise in patients who lack genetic predisposition for the disease. Furthermore, this case is one of the few that have shown, histopathologically, a small focus of malignant cells developing from a benign population within a nevus, which highlights the importance of closely monitoring nevi for signs of malignancy.
多灶性葡萄膜黑色素瘤极为罕见。在本病例报告中,我们描述了一名同一只眼睛患有2个独立葡萄膜黑色素瘤的患者。一名52岁女性左眼出现一个大的脉络膜黑色素瘤和一个较小的睫状体肿物,临床认为是痣。眼球摘除标本显示有2个解剖学上分离的原发性病变。病变1是黑色素瘤,病变2是起源于中央痣的黑色素瘤。两个病变均存在GNAQ突变。该患者无葡萄膜黑色素瘤家族史或眼黑变病体征,且BAP1突变检测为阴性。本病例表明,缺乏该疾病遗传易感性的患者也可发生多灶性葡萄膜黑色素瘤。此外,该病例是少数经组织病理学显示痣内良性细胞群中出现小灶恶性细胞的病例之一,这凸显了密切监测痣有无恶变迹象的重要性。