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Cytogenetic or molecular analysis for prognosis?
Author(s) -
Jager M.J.
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2016.0105
Subject(s) - bap1 , melanoma , microrna , chromosome , chromosome analysis , oncology , cancer research , karyotype , messenger rna , computational biology , biology , medicine , bioinformatics , genetics , gene
Summary Prognostication in uveal melanoma can have several functions: to advice the patient, to council patients with regard to monitoring, and to stratify patients in trials. Scientifically, determination of the parameters that define the development of metastases is of interest to understand tumour behaviour and develop treatments. The behaviour of tumor cells is related to changes at the DNA level, which lead to differences in mRNA, lncRNA, miRNA, and protein expression. A variety of tests using different technical platforms identify these differences, and can, after validation, be used for prognostication. Commonly‐used tests use the chromosome status (chrom 3, 8q), or the RNA expression pattern (Class 1 and 2). Expression of BAP1 can also be used. Some patients with low risk uveal melanoma also develop metastases, and these have been associated with the presence of extra copies of chromosome 8q, and with a specific marker, PRAME. The biological pathways that lead to metastases are still under investigation, although it is clear that a combination of loss of one chromosome 3 and loss of expression of BAP1 on the other chromosome 3 plays an important role in this pathway.