Uveal melanoma and renal cell carcinoma both metastatic to the liver
Abstract
Purpose
Germline mutations in the BRCA1-associated protein-1 gene (BAP1) predispose carriers to several types of cancer, including uveal and cutaneous melanoma, mesothelioma, renal cell cancer, and possibly other diverse tumor types. Approximately 2% of consecutive Finnish uveal melanoma patients harbor a germline mutation in BAP1.
Methods
Case report.
Results
A 53-year-old man was diagnosed with renal cancer in 2006. No metastasis was detected during a 5-year follow-up after surgery. In 2011, he noted decreased vision in his left eye. Ophthalmological examination revealed a suspicious choroidal mass and the patient was referred to the ocular Oncology service, Helsinki University Eye Clinic. A choroidal melanoma with a largest basal dimension of 15.5 mm and thickness of 11.1 mm and no metastases was detected (T3aN0M0, stage IIB). He received brachytherapy with an iodine plaque. Three years later he had liver metastases, and biopsies indicated the presence of both uveal melanoma and renal carcinoma metastases. Further, a sister of his father also has had uveal melanoma. Given that the patient was a candidate to harbor a germline BAP1 mutation we sequenced the gene. No mutation was found in the coding regions or adjacent intronic sequences. Further, we carried out whole exome sequencing, and no mutations or mosaicism were found in BAP1, BRCA1, SF3B1, or EIF1AX.
Conclusions
Not all familial uveal melanoma patients even with history of renal cell cancer harbor an obvious BAP1 germline mutation. Currently, we are analyzing histological samples to further investigate the possible role of BAP1 in tumor tissue and genetic data to find or exclude indirect effect on BAP1 function.
