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

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...

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Bibliographic Details
Published in:Familial cancer 2022-01, Vol.21 (1), p.1-5
Main Authors: Grosel, Timothy W., Karl, Matthew, Pilarski, Robert T., Davidorf, Frederick H., Abdel-Rahman, Mohamed H., Cebulla, Colleen M.
Format: Article
Language:English
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
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-020-00220-2