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Prognostic Testing in Uveal Melanoma

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Cancer Genomics

Abstract

Uveal melanoma (UM) is the most frequent intraocular tumor in adults with an annual incidence of about 6/1.000.000. Despite successful treatment of the primary tumor in most cases, approximately 50% of patients die from metastases within 15 years after treatment. This proportion has remained constant during the last decades.

Various clinical and histopathological parameters have been found to be associated with metastatic progression of uveal melanoma. Cytogenetic analysis has revealed that loss of one copy of chromosome 3 (monosomy 3), which is present in about half of all UMs is associated with poor prognosis. In fact, this is one of the most reliable prognostic markers and is superior to all clinical markers. Consequently, monosomy 3 testing is widely used in clinical routine in patients with uveal melanoma.

In recent years a UM classification model has gained acceptance, according to which UM is not a uniform entity but can be divided in at least two major classes. The strongest evidence for this model comes from global gene expression studies. Unsupervised data analysis of global expression data supports a highly robust class assignment of tumors. These classes are congruent with the chromosome 3 status and the metastatic potential of the tumor. Therefore, tumor classification by gene expression profiling is an alternative approach for predictive testing of patients. In this chapter we will describe the prognostic markers and the different diagnostic settings in more detail. Finally we will elaborate on the strength and weaknesses of these methods in the setting of routine testing of patients.

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  1. Institut für Humangenetik, Universitätsklinikum Essen, 45122, Essen, Germany

    Michael Zeschnigk & Dietmar R. Lohmann

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Correspondence to Michael Zeschnigk .

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  1. , Integrated Molecular Pathology, National Cancer Research Institute, Largo Rosanna Benzi 10, Genova, 16132, Italy

    Ulrich Pfeffer

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Zeschnigk, M., Lohmann, D.R. (2013). Prognostic Testing in Uveal Melanoma. In: Pfeffer, U. (eds) Cancer Genomics. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-5842-1_3

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