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.

最近的证据表明，PALB2变异可能会增加葡萄膜黑色素瘤和葡萄膜黑色素细胞肿瘤的发展风险。在这里，我们报告了一例非典型脉络膜痣，患者有癌症个人病史和致病性PALB2种系变异。一名 75 岁的白人女性出现显着升高的无色素性脉络膜病变 OS。在检查和眼科成像中，肿块大小为 8.8 mm × 6.5 mm × 1.5 mm。肿块在诊断性 A 扫描和 B 扫描上主要显示出中高反射率和声学空洞。病灶上的 OCT 显示没有视网膜下积液。患者有乳腺癌和胃腺瘤的个人病史以及很强的癌症家族史。该患者被发现具有致病性截短变异PALB2（rs118203998 c.3549C > A，p.Y1183*）。连同我们之前在葡萄膜黑色素瘤患者中发现致病性PALB2变异的发现，这一在具有致病性PALB2种系变异的患者中发现非典型脉络膜痣的新发现表明，致病性PALB2变异可能是葡萄膜黑色素细胞肿瘤的危险因素。这一发现需要进一步评估PALB2致病性变异携带者葡萄膜黑色素细胞肿瘤的患病率和进展。