Retinal Cases & Brief Reports 2019 December 31 [Link]
Yaghy A, Lim LA, Mashayekhi A, Shields CL
Abstract
PURPOSE:
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.
METHOD:
Case report.
RESULTS:
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.
CONCLUSION:
BAP1 tumor predisposition syndrome can promote risk of uveal melanoma and malignant peritoneal mesothelioma. Cancer screening for these malignancies is warranted.
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