Melanoma, Uveal, Susceptibility To, 1

Uveal melanoma (155720) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, Tschentscher et al. (2001) investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. Tschentscher et al. (2001) interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1, and a second on 3p25, here designated UVM2 (606661). The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.