Retinal Cases & Brief Reports 2019 December 31 [Link]
Yaghy A, Lim LA, Mashayekhi A, Shields CL
BAP1 germline mutation can promote risk of uveal melanoma and mesothelioma. In this study, we report a patient with BAP1 germline mutation and uveal melanoma who developed a rare form of mesothelioma in the peritoneum.
A 55-year-old white man noted blurred vision in the left eye. Examination revealed superotemporal episcleral sentinel vessels and a dark brown iris mass suspicious for melanoma, with angle invasion and involvement of the ciliochoroidal region. The tumor measured 14 mm in diameter and 10.3 mm in thickness. A diagnosis of iridociliochoroidal melanoma was rendered and plaque radiotherapy applied. Genetic testing revealed BAP1 germline mutation. At 3.5-year follow-up, tumor control was achieved, but radiation-related complications led to enucleation. At 5.5-year follow-up, incidental findings by laparoscopy revealed multiple peritoneal tumors, histopathologically proven to be malignant peritoneal mesothelioma. Lung evaluation was normal, and there was no melanoma-related or mesothelioma-related metastasis. Likewise, magnetic resonance imaging of the abdomen showed no evidence of hepatic metastasis.
BAP1 tumor predisposition syndrome can promote risk of uveal melanoma and malignant peritoneal mesothelioma. Cancer screening for these malignancies is warranted.