The Role of Pathologic and Molecular Genetic Factors in Development of Uveal Melanoma Extrabulbar Growth

The aim of the investigation is the disclosure of tumor extrabulbar growth association with pathologic and molecular genetic changes in patients with uveal melanoma.

Materials and Methods. 134 patients with uveal melanoma at the age of 22 to 84 years were examined and treated. The average height of the tumor was 9.2±2.9 mm, basal diameter was 15.3±3.5 mm. In 97.8% of cases enucleation of the affected eye was performed. Histological tumor types were spindle cell (n=61; 45.6%), mixed (n=46; 34.3%), and epithelioid (n=27; 20.1%). Using the PCR–RFLP analysis (polymerase chain reaction–restriction fragment length polymorphism) and deletion mapping method were determined full and partial monosomy of chromosome 3, deletions of the short arm of chromosome 1 and RASSF1A gene methylation (n=134). The patients were divided into two groups: the presence (n=15) and the absence (n=119) of extrabulbar growth.

Results. Significantly lower rate (20 vs. 47.9%) of spindle cell type spindle cell type in the group with extrabulbar growth is shown. The frequency of full or partial monosomy of chromosome 3 in the group with extrabulbar tumor growth was significantly higher (80 vs. 50.4%). When comparing the groups on age and sex of the patient, the height and basal diameter, ciliary body involvement, tumor pigmentation, the presence of hemophthalmia, retinal detachment, subretinal exudate, family history, deletion of the short arm of chromosome 1 and the RASSF1A gene methylation no significant differences were found.

Conclusion. A statistically significant number of patients with uveal melanoma showed favorable tumor prognosis in the spindle cell tumor type and negative prognosis when detecting monosomy of chromosome 3, which correlated with the extrabulbar tumor growth. To determine the relationship between the probability of extrabulbar tumor growth and other molecular genetic changes in further researches are needed.

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Tsygankov A.Iu., Amiryan A.G., Saakyan S.V. The Role of Pathologic and Molecular Genetic Factors in Development of Uveal Melanoma Extrabulbar Growth. Sovremennye tehnologii v medicine 2016; 8(2): 76, https://doi.org/10.17691/stm2016.8.2.11