Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant

• Published in: Familial cancer Vol. 21; no. 1; pp. 1 - 5
• Main Authors: Grosel, Timothy W., Karl, Matthew, Pilarski, Robert T., Davidorf, Frederick H., Abdel-Rahman, Mohamed H., Cebulla, Colleen M.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.01.2022; Springer Nature B.V
• Subjects: Adenoma; Aged; Biomedical and Life Sciences; Biomedicine; Breast cancer; Cancer; Cancer Research; Case reports; Epidemiology; Family medical history; Fanconi Anemia Complementation Group N Protein - genetics; Female; Genetic Predisposition to Disease; Human Genetics; Humans; Melanoma; Melanoma - genetics; Melanoma - pathology; Nevus; Risk factors; Short Communication; Tumors; Uveal Neoplasms; Uveal melanoma; Atypical choroidal nevus; PALB2; Germline
• ISSN: 1389-9600; 1573-7292; 1573-7292
• DOI: 10.1007/s10689-020-00220-2

Recent evidence suggests that PALB2 variants may increase risk for the development of uveal melanoma and uveal melanocytic neoplasms. Here we report a case of an atypical choroidal nevus in a patient with a personal history of cancer and pathogenic PALB2 germline variant. A 75-year-old white female presented with an elevated predominantly amelanotic choroidal lesion OS. On examination and ophthalmic imaging, the mass measured 8.8 mm × 6.5 mm × 1.5 mm. The mass showed predominantly medium to high reflectivity on diagnostic A-scan and acoustic hollowing on B-scan. OCT over the lesion showed no subretinal fluid. The patient has a personal history of breast cancer and gastric adenoma and a strong family history of cancer. The patient was found to have a pathogenic truncating variant in PALB2 (rs118203998 c.3549C > A, p.Y1183*). Together with our previous findings of pathogenic PALB2 variants in uveal melanoma patients, this new finding of an atypical choroidal nevus in a patient with a pathogenic PALB2 germline variant suggests that pathogenic PALB2 variants may be a risk factor for uveal melanocytic neoplasms. This finding warrants further assessment of the prevalence and progression of uveal melanocytic neoplasms in PALB2 pathogenic variant carriers.