[Genetic instability in human malignant uveal melanomas]. 2003

Ewa Proniewska-Skretek, and Witold Pepiński, and Małgorzata Skawrońska, and Zofia Mariak, and Renata Zalewska, and Jerzy Janica, and Andrzej Stankiewicz
Kliniki Okulistyki Akademii Medycznej w Białymstoku.

OBJECTIVE The aim of the study was evaluation of genetic changes: loss of heterozygosity (LOH) and microsatellite instability (MSI) in the genome of cells of the uveal melanoma. METHODS The incidence of MSI and LOH in cells of uveal melanomas was examined in tissue specimens obtained at surgical resection of the tumour in 14 patients. The results were related to respective MSI and LOH incidence in the genome of peripheral blood cells of the same patients. DNA was isolated with organic extraction. The fluorescent multiplex polymerase chain reaction (PCR) was used to amplify microsatellite loci included in commercially available human identification kits. Phenotyping was performed with the use of ABI Prism 310 Genetic Analyzer. RESULTS MSI and LOH was found in 6 of 14 cases of uveal melanoma, manifested at one or more loci. MSI was present in chromosomes 3, 11 and 16. LOH was detected in chromosomes: 2, 3, 8, 13, 16 and 19. Genetic instability of the LOH/MSI type was detected in 3 patients with long anamnesis and large tumor infiltrating retrobulbar structures (pT4 feature). Two patients died within a year because of generalized cancer disease. CONCLUSIONS 1 Loss of heterozygosity and microsatellite instability is present in uveal melanomas. 2. Genetic instability of LOH/MSI type associates with advanced size of tumour and progression of neoplastic disease.

UI MeSH Term Description Entries
D008297 Male Males
D008545 Melanoma A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) Malignant Melanoma,Malignant Melanomas,Melanoma, Malignant,Melanomas,Melanomas, Malignant
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D014408 Biomarkers, Tumor Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or BODY FLUIDS. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including HORMONES; ANTIGENS; amino and NUCLEIC ACIDS; ENZYMES; POLYAMINES; and specific CELL MEMBRANE PROTEINS and LIPIDS. Biochemical Tumor Marker,Cancer Biomarker,Carcinogen Markers,Markers, Tumor,Metabolite Markers, Neoplasm,Tumor Biomarker,Tumor Marker,Tumor Markers, Biochemical,Tumor Markers, Biological,Biochemical Tumor Markers,Biological Tumor Marker,Biological Tumor Markers,Biomarkers, Cancer,Marker, Biochemical Tumor,Marker, Biologic Tumor,Marker, Biological Tumor,Marker, Neoplasm Metabolite,Marker, Tumor Metabolite,Markers, Biochemical Tumor,Markers, Biological Tumor,Markers, Neoplasm Metabolite,Markers, Tumor Metabolite,Metabolite Markers, Tumor,Neoplasm Metabolite Markers,Tumor Markers, Biologic,Tumor Metabolite Marker,Biologic Tumor Marker,Biologic Tumor Markers,Biomarker, Cancer,Biomarker, Tumor,Cancer Biomarkers,Marker, Tumor,Markers, Biologic Tumor,Markers, Carcinogen,Metabolite Marker, Neoplasm,Metabolite Marker, Tumor,Neoplasm Metabolite Marker,Tumor Biomarkers,Tumor Marker, Biochemical,Tumor Marker, Biologic,Tumor Marker, Biological,Tumor Markers,Tumor Metabolite Markers
D014604 Uveal Neoplasms Tumors or cancer of the UVEA. Neoplasm, Uveal,Neoplasms, Uveal,Uveal Neoplasm
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

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