Genetics of primary intraocular tumors.

Nisha Nagarkatti-Gude, Yujuan Wang, Mohammad Javed Ali, Santosh G Honavar, Martine J Jager, Chi-Chao Chan

Journal: Ocular immunology and inflammation 2013;20(4):244-54

PMID: 22834783

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Abstract

Primary intraocular neoplasms are tumors that originate within the eye. The most common malignant primary intraocular tumor in adults is uveal melanoma and the second is primary intraocular lymphoma or vitreoretinal (intraocular) lymphoma. The most common malignant intraocular tumor in children is retinoblastoma. Genetics plays a vital role in the diagnosis and detection of ocular tumors. In uveal melanoma, monosomy 3 is the most common genetic alteration and somatic mutations of BAP1, a tumor suppressor gene, have been reported in nearly 50% of primary uveal melanomas. The retinoblastoma gene RB1 is the prototype tumor suppressor gene-mutations in RB1 alleles lead to inactivated RB protein and the development of retinoblastoma. Immunoglobulin heavy chain (IgH) or T-cell receptor (TCR) gene rearrangement is observed in B-cell or T-cell primary vitreoretinal lymphoma, respectively. Other factors related to the genetics of these three common malignancies in the eye are discussed and reviewed.

Address: Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

DOI: 10.3109/09273948.2012.702843

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MeSH Terms: Chromosome Deletion, Chromosomes, Human, Pair 3, Female, Gene Rearrangement, Humans, Immunoglobulin Heavy Chains, Lymphoma, Male, Melanoma, Mutation, Receptors, Antigen, T-Cell, Retinoblastoma, Retinoblastoma Protein, Tumor Suppressor Proteins, Ubiquitin Thiolesterase, Uveal Neoplasms, Uveal Melanoma