Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant
| Autor: | Mohamed H. Abdel-Rahman, Frederick H. Davidorf, Matthew D Karl, Robert Pilarski, Colleen M. Cebulla, Timothy W. Grosel |
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| Rok vydání: | 2021 |
| Předmět: |
Uveal Neoplasms
0301 basic medicine Cancer Research Pathology medicine.medical_specialty PALB2 030105 genetics & heredity Article Germline Lesion 03 medical and health sciences 0302 clinical medicine Breast cancer Genetics Humans Medicine Genetic Predisposition to Disease Family history Melanoma Nevus Genetics (clinical) Aged business.industry Cancer medicine.disease eye diseases Choroidal nevus Oncology 030220 oncology & carcinogenesis Female sense organs medicine.symptom Fanconi Anemia Complementation Group N Protein business |
| Zdroj: | Fam Cancer |
| ISSN: | 1573-7292 1389-9600 |
| Popis: | INTRODUCTION: 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. MATERIALS AND METHODS: Retrospective case report of a patient with an atypical choroidal nevus and pathogenic PALB2 germline variant RESULTS: 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 x 6.5 mm x 1.5mm. 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*). CONCLUSION: 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 variants carriers. |
| Databáze: | OpenAIRE |
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