Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020, 164(4):401-409 | DOI: 10.5507/bp.2019.037

Uveal melanoma - testing of abnormalities of chromosome 3 and 8 in the Czech Republic

Veronika Matuskovaa, Pavla Hornackovaa, Radoslava Uhmannovaa, Lenka Zlamalikovab, Kvetoslava Liskovab, Michal Uherc, Eva Vlkovaa
a Department of Ophthalmology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic
b Department of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic
c Institute of Biostatistics and Analyses, Faculty of Medicine, Masaryk University, Brno, Czech Republic

Aim: The aim of this cytogenetic study is to confirm the significance of chromosome 3 loss (monosomy 3) and of the gain of chromosome 8 as prognostic markers in histopathological samples of enucleated eyes with uveal melanoma in the Czech population.

Methods: This is a retrospective study of 52 enucleated eyes. Chromosome 3 and 8 status were tested by CISH, and in a few samples FISH was used. The correlation between monosomy 3 and gain of chromosome 8 and clinical features (histopathological type, size of the tumour) were evaluated. A follow up for the detection of metastases was conducted in all patients. The statistical significance of chromosomal abnormalities as a prognostic factor for the development of metastases was calculated.

Results: There were 52 patients, 27 men (51.9%) and 25 women (48.1%) enrolled in our study group. The mean age was 63 ± 14 years. Loss of the one copy of chromosome 3 (monosomy 3) was detected in 26 (50.0%) patients, monosomy 8 was present in 34.6% of patients with monosomy 3. After 5 years there were no metastases in 82% of patients without monosomy 3 as opposed to 40% of patients with monosomy 3. We confirmed a statistically significant association between progression free survival (PFS) and the presence of monosomy 3 (P=0.017). The association between PFS and gain of chromosome 8 was significant as well (0.010).

Conclusions: Our data showed the association of progression-free survival with the presence of monosomy 3 in uveal melanomas. We provided a good prognostic value of monosomy 3 in uveal melanoma.

Keywords: uveal melanoma, chromosome 3, chromosome 8, CISH, FISH, progression-free survival

Received: April 24, 2019; Revised: June 19, 2019; Accepted: July 22, 2019; Prepublished online: September 23, 2019; Published: December 15, 2020  Show citation

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Matuskova, V., Hornackova, P., Uhmannova, R., Zlamalikova, L., Liskova, K., Uher, M., & Vlkova, E. (2020). Uveal melanoma - testing of abnormalities of chromosome 3 and 8 in the Czech Republic. Biomedical papers, 164(4), 401-409. doi: 10.5507/bp.2019.037
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