title: A review of advanced genetic testing for clinical prognostication in uveal melanoma.
abstract: Uveal melanoma (UM) has a strong propensity to metastasize and the prognosis for metastatic disease is very poor. It has been suggested that occult micrometastases are already present, but undetectable, in many patients at the time when the primary ocular tumor is diagnosed and treated. To identify high-risk patients for close monitoring and early intervention with prophylactic adjuvant systemic therapy, an accurate predictive system is necessary for stratifying those patients at risk of developing metastatic disease. To date, many clinical and histopathological features, molecular pathway characteristics, and genetic fingerprints of UM have been suggested for disease prognostication. Among the newest of them, tumor genetics has received the most attention in demonstrating promise as a prognostic tool. Because of the plethora of recent developments, we summarize and compare in this review the important standard and more advanced cytogenetic prognostic markers. We further describe the variety of genetic tests available for prognostication of UM, and provide a critical assessment of the respective advantages and disadvantages of these tools.
authors.affiliation: Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston, Massachusetts , USA and.
authors.forename: Xiang Q
authors.initials: XQ
authors.lastname: Werdich
authors.forename: Frederick A
authors.initials: FA
authors.lastname: Jakobiec
authors.forename: Arun D
authors.initials: AD
authors.lastname: Singh
authors.forename: Ivana K
authors.initials: IK
authors.lastname: Kim
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D003582:Cytogenetics; D020869:Gene Expression Profiling; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics* / Q000556:secondary; D011379:Prognosis; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000556:secondary; D000098943:Uveal Melanoma
chemical_list: C400134:BAP1 protein, human; D014408:Biomarkers, Tumor; D005819:Genetic Markers; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase