Comparative genomic hybridization in the detection of DNA copy number abnormalities in uveal melanoma

• Published in: Cancer research (Chicago, Ill.) Vol. 54; no. 17; pp. 4764 - 4768
• Main Authors: GORDON, K. B, THOMPSON, C. T, CHAR, D. H, O'BRIEN, J. M, KROLL, S, GHAZVINI, S, GRAY, J. W
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Association for Cancer Research 01.09.1994
• Subjects: Biological and medical sciences; Chromosome Aberrations - genetics; DNA, Neoplasm - genetics; Humans; In Situ Hybridization, Fluorescence - methods; Medical sciences; Melanoma - genetics; Ophthalmology; Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus; Uveal Neoplasms - genetics; Human; Molecular hybridization; Copy number; Pathogenesis; Melanoma; Uvea disease; Malignant tumor; Tissue; Eye disease; Uvea; DNA; Genome; Comparative study
• ISSN: 0008-5472; 1538-7445

Genomic instability appears to play an important role in the development, growth, invasiveness, and eventual metastasis of the neoplastic cell. We have used a powerful new technique, comparative genomic hybridization, to evaluate genetic alterations in 10 fresh frozen uveal melanomas. Comparative genomic hybridization utilizes dual fluorescence in situ hybridization to characterize chromosome deletions and duplications, allowing for simultaneous evaluation of the entire human genome. Several consistent chromosomal abnormalities were detected. This study confirmed previous findings obtained using standard cytogenetic techniques but demonstrated an increased incidence in abnormalities of chromosomes 3 and 8; there was loss of chromosome 3 and duplication of 8q. In addition, we identified, although less frequently, other recurrent abnormal regions including alterations on chromosomes 6p, 7q, 9p, and 13q.