Related Experiment Video
Updated: Nov 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant
Timothy W Grosel1, Matthew Karl1, Robert T Pilarski2
1Department of Ophthalmology and Visual Sciences, Havener Eye Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Pathogenic PALB2 variants may increase the risk of uveal melanocytic neoplasms, including atypical choroidal nevi. This case highlights PALB2 as a potential risk factor for these eye tumors.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Germline variants in PALB2 are associated with increased cancer risk.
- Previous studies suggest a link between PALB2 variants and uveal melanoma.
Observation:
- A 75-year-old female with a history of breast cancer and gastric adenoma presented with an atypical amelanotic choroidal lesion.
- Ophthalmic imaging revealed an elevated choroidal mass measuring 8.8 × 6.5 × 1.5 mm with specific acoustic characteristics.
- The patient carried a pathogenic truncating variant in PALB2 (rs118203998 c.3549C>A, p.Y1183*).
Findings:
- The patient's choroidal lesion was diagnosed as an atypical choroidal nevus.
- The presence of a pathogenic PALB2 germline variant in this patient with an atypical choroidal nevus is reported.
- This finding aligns with prior evidence linking PALB2 variants to uveal melanoma.
Implications:
- Pathogenic PALB2 variants may represent a risk factor for developing uveal melanocytic neoplasms.
- Further research is warranted to assess the prevalence and progression of uveal melanocytic neoplasms in individuals with pathogenic PALB2 variants.
- Genetic screening for PALB2 variants could be considered in patients with uveal melanocytic neoplasms.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
X-linked Traits
Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs