NR 6/2003
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Niestabilność genetyczna w guzach
barwnikowych błony naczyniowej oka
Genetic instability in human malignant uveal melanomas
Ewa Proniewska-Skrętek1, Witold Pepiński2,
Małgorzata Skawrońska2, Zofia Mariak1,
Renata Zalewska1, Jerzy Janica1, Andrzej Stankiewicz1
1Z Kliniki Okulistyki Akademii Medycznej w Białymstoku
Kierownik: dr hab. n. med. Zofia Mariak
2Z Zakładu Medycyny Sądowej Akademii Medycznej w Białymstoku
Kierownik: prof. dr hab. n. med. Jerzy Janica |
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| Summary: |
Purpose: 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.
Material and 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. |
| Słowa kluczowe: |
czerniak złośliwy naczyniówki, zaburzenia genetyczne,
utrata heterozygotyczności, niestabilność mikrosatelitarna. |
| Key words: |
choroidal melanoma, genetic instability, loss of
heterozygosity (LOH), microsatellite instability (MSI). |
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