Gene Expression Profiling
Simultaneous compares the expression levels of many genes between two or more sample types.
  • Helps scientists identify the molecular basis for phenotypic differences and select gene expression targets
Requirements
The test requires a small sample of the patient's tumor
DecisionDX-UM Test for Uveal Melanoma
DecisionDX-UM
  • Measures Gene Expression Profile (GEP), molecular signature, or gene expression patterns, of an ocular melanoma tumor
  • Identifies with high accuracy the likelihood of metastasis
  • Compared to traditional staging methods and to chromosome 3 testing. 
  • This test was found to be better than the other two tests. 

Genomic changes, most importantly loss of a single copy of chromosome 3, are associated with an increased risk of metastasis.2–5Gene expression profiling of uveal melanomas has revealed 2 distinct classes of tumors that accurately predict prognosis. Class 1 tumors are unlikely to metastasize, while class 2 tumors are more likely to metastasize and cause death. The genetic signature of class 1 and class 2 tumors can be assessed from a traditional biopsy or from a fine needle aspiration biopsy (FNAB). This gene expression profiling has been shown to have superior predictive accuracy when compared to the analysis using fluorescence in situ hybridization or array comparative genomic hybridization looking only at monosomy.

  • Clinical and Histopathologic Features
  • Choromosomal Abnormalities
  • Global Gene Expression Patterns
  • Genetic Mutations
Note
"tumors with this mutation tended to have a larger diameter and greater depth of invasion and to contain epithelioid cells."
Questions
Is there a test that takes all of the mutations possible and puts out their output?
If so, is there any correlations between certain mutations and certain symptoms?
Do multiple mutations account for common symptoms? 
Do single mutations account for multiple symptoms?
How consistent are correlations between mutations and development of the disease?
Gene Mutations for Conjunctival Melanoma
Development of Test

The genetic expression profiles of those discriminating genes were verified in uveal melanoma tumors using quantitative polymerase chain reaction (qPCR) methods, and predictive modeling was performed to identify an optimum set of genes able to accurately predict metastatic risk and report class assignments.

Note

DecisionDX-UM Summary: GEP Test enables accurate staging of metastatic risk. (2013) My Uveal Melanoma. Retrieved October 15, 2013 from http://myuvealmelanoma.com/health-care-professionals/decisiondx-um-summary/

Griewank K. G,Westekemper H, Murali R. Mach M, Schilling B, Wiesner T, Schimming T, … Schandendorf D. (2013). Conjunctival Melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas. Clinical Cancer Research, 19(12) 3143-52 doi: 10.1158/1078-0432.CCR-13-0163.

Michael C. Chappell, Devron H. Char, Tia B. Cole, J. William Harbour, Kavita Mishra, Vivian K. Weinberg, Theodore L. Phillips. (2012). Uveal Melanoma: Molecular Pattern, Clinical Features, and Radiation Response. American Journal of Ophthalmology, 0002-9394 doi: 10.1016/j.ajo.2012.02.022.Description

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