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

Abstract

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.

Keywords: Atypical choroidal nevus; Germline; PALB2; Uveal melanoma.

Fig. 1.

A. Fundus photograph of left eye with mildly elevated predominantly amelanotic choroidal mass superior temporal to fovea with overlying drusen and no orange pigment. B. Longitudinal B-scan of the lesion at recent visit demonstrating acoustic hollowing. C. OCT over the elevated choroidal lesion demonstrates no subretinal fluid. D. A-scan of lesion, showing thickness of 1.63 mm and predominantly medium to high internal reflectivity.

Fig 2.

Pedigree of the proband. Proband (III-1) has personal history of breast cancer and atypical choroidal nevus. Proband’s father (II-2) had pancreatic cancer at age 66, and sister (III-3) had breast cancer at age 77. Two nieces also had breast cancer, at age 54 and 38 (IV-2, IV-3). Proband’s brother (III-2) had metastatic gastric cancer at age 61.