Case ReportGROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROMEMasoomian, Babak MD*; Shields, Carol L. MD*; Mashayekhi, Arman MD*; Ganguly, Arupa PhD†; Shields, Jerry A. MD*Author Information *Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania; and †Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania. Reprint requests: Carol L. Shields, MD, Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut Street, Suite 1440, Philadelphia, PA 19107; e-mail: [email protected] Supported by Eye Tumor Research Foundation, Philadelphia, PA (C.L.S.). None of the authors has any financial/conflicting interests to disclose. The funders had no role in the design and conduct of the study, in the collection, analysis, and interpretation of the data, and in the preparation, review, or approval of the manuscript. C. L. Shields has had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Retinal Cases & Brief Reports: March 2021 - Volume 15 - Issue 2 - p 93-96 doi: 10.1097/ICB.0000000000000772 Buy Metrics AbstractIn Brief Purpose: To report a case of presumed choroidal nevus that eventually grew into melanoma in a patient with family history of choroidal melanoma and germline BAP1 mutation. Methods: Case report. Results: A 55-year-old healthy white woman with a family history of uveal melanoma in her father, paternal aunt, and paternal cousin was referred for evaluation of an asymptomatic small pigmented choroidal lesion in her right eye, measuring 2 mm × 2 mm in basal diameter and 1 mm in thickness. There were no clinical risk factors. The patient was advised routine monitoring but returned 4 years later with intermittent photopsia. The choroidal mass demonstrated growth and suggestive of transformation into melanoma, measuring 9 mm × 6 mm in basal diameter and 2.5 mm in thickness with overlying orange lipofuscin pigment and no associated subretinal fluid. Fine-needle aspiration biopsy disclosed Chromosome 3 mosaic monosomy and Chromosomes 6 and 8 disomy. Iodine 125 plaque radiotherapy was provided. Based on growth to melanoma and strong family history of uveal melanoma, BAP1 germline mutation testing was performed, and the results were positive. Conclusion: This case demonstrates growth of a presumed choroidal nevus into melanoma in the setting of underlying germline BAP1 mutation. We suggest that small pigmented choroidal lesions be monitored closely in patients with germline BAP1 mutation or with family history of uveal melanoma, even in the absence of known local risk factors predictive of tumor growth. A 55-year-old woman with a presumed choroidal nevus of 2-mm basal diameter demonstrated growth into melanoma of 9-mm diameter over 4 years and was treated with plaque radiotherapy. She disclosed a strong family history of choroidal melanoma, and BAP1 germline testing was positive. We advise close monitoring of small pigmented choroidal lesions in patients with germline BAP1 mutation or with family history of uveal melanoma, even in the absence of known local risk factors predictive of tumor growth.