title: Genetics of primary intraocular tumors.
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.
authors: Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
authors: Nisha
authors: N
authors: Nagarkatti-Gude
authors: Yujuan
authors: Y
authors: Wang
authors: Mohammad Javed
authors: MJ
authors: Ali
authors: Santosh G
authors: SG
authors: Honavar
authors: Martine J
authors: MJ
authors: Jager
authors: Chi-Chao
authors: CC
authors: Chan
mesh_terms: D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D008223:Lymphoma / Q000235:genetics*; D008297:Male; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D014604:Uveal Neoplasms / Q000235:genetics*; D000098943:Uveal Melanoma
chemical_list: C400134:BAP1 protein, human; D007143:Immunoglobulin Heavy Chains; D011948:Receptors, Antigen, T-Cell; D016160:Retinoblastoma Protein; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase