The SALSA MLPA
Probemix P027 Uveal melanoma, is a research use only (RUO)
assay for the detection of deletions or duplications in on chromosomes 1p, 3, 6 and 8, which are recurrent genetic alterations in uveal melanoma.
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, with mortality over 50%, usually due to metastatic spread to the liver. Recent research suggests that UMs with monosomy 3 (50-60% of all uveal melanomas) represent a distinct pathological entity as compared to those with normal disomy 3, as monosomy 3 strongly correlates with metastatic death. Chromosome 6 aberrations probably constitute a second entry point in the process of carcinogenesis, while gains in 8q seem to appear later in the natural history of UMs due to their higher frequency in larger tumours. Early detection of high risk UM patients would enable better screening for metastasis and for optimized therapy selection, and as well to reassure patients with no loss of chromosome 3, which is associated with very good prognosis.
The SALSA MLPA Probemix P027-C2 Uveal melanoma contains 50 MLPA probes with amplification products between 124 and 504 nucleotides (nt). This includes seven probes for 1p, 19 probes for chromosome 3, six probes chromosome 6 and six probes for chromosome 8. In addition, 12 reference probes are included and target relatively copy number stable regions in UM. Complete probe sequences and the identity of the genes detected by the reference probes are present in Table 2 and online (www.mlpa.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com