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Molecular Biology and Genetics |
Institut für Humangenetik [F.T., B.H., D.R.L., M.Z.], Innere Klinik und Poliklinik (Tumorforschung) [G.P.], and Augenklinik [G.A., H.S., N.B.], Universitätsklinikum Essen, D-45122 Essen, Germany; Department of Pathology and Laboratory Medicine, British Columbia Cancer Agency [D.E.H.], and Department of Pathology and Ophthalmology [V.A.W.], Vancouver General Hospital and University of British Columbia, Vancouver, British Columbia, Canada; Institut für Klinische Genetik, Zentrum für Humangenetik, Philipps-Universität, Marburg, Germany [H.R.]; and Augenklinik, Universitätsklinikum Tübingen, Tübingen, Germany [K.U.B-S.]
Uveal melanoma is the most common form of primary eye cancer. Monosomy 3, which is an unusual finding in tumors but is present in 
50% of uveal melanomas, is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on this chromosome, we have 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 eight tumors, and the smallest region of deletion overlap (SRO) spans 3q24–q26. We found six tumors with a partial deletion of the short arm and were able to define a second SRO of about 2.5 Mb in 3p25. This SRO does not overlap with the VHL gene. Our finding suggests a role for two tumor suppressor genes in metastasizing uveal melanoma and may explain the loss of an entire chromosome 3 in these tumors.
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