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Different techniques to evaluate chromosome aberrations
Author(s) -
COUPLAND SE,
DAMATO BERTIL
Publication year - 2008
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.1755-3768.2008.5361.x
Subject(s) - monosomy , multiplex ligation dependent probe amplification , medicine , melanoma , molecular inversion probe , disease , oncology , chromosome , pathology , biology , cancer research , single nucleotide polymorphism , karyotype , gene , genetics , genotype , exon
Purpose To review the demonstration of chromosomal alterations in uveal melanomas Methods Uveal melanomas (UM) have an incidence of 6 per million per year, with presentation peaking at 60 years. Treatment is by various combinations of radiotherapy, local resection and phototherapy in 70% of patients, and by enucleation in 30%. Despite successful ocular treatment, 50% of UM patients develop metastatic disease. This occurs haematogenously, usually involving the liver, and almost always causing death within a year of the onset of symptoms. Long‐term survival is rare. Clinical trials evaluating agents for systemic adjuvant therapy are difficult because of the rarity of UM & the reduced availability of molecular genetic testing. Results In 1999 Prescher et al. reported that metastatic death occurs almost exclusively in patients with UM showing monosomy 3. Others also demonstrated a strong inverse relationship correlation between the presence of additional copies of 8q and survival. In contrast, patients with tumours having chromosome 6 abnormalities appear to have better prognosis. These analyses have been performed using FISH. Long‐term data suggests that FISH, however, is not highly specific, and that approx. 5‐10% of patients with disomy 3 UM develop metastatic disease. Newer methodologies are being tested on a research basis in the hope of using them as a diagnostic tool. These include multiplex ligation probe amplification (MLPA), array chromosome genomic hybridisation (aCGH), single nucleotide polymorphism (SNP) analysis and gene expression profiling. Conclusion Newer methodologies will provide more details to chromosomal changes in uveal melanoma, and possibly molecular therapeutic targets to which new medications can be directed in adjuvant treatment of metastatic disease.