Circumscribed choroidal hemangioma (CCH) and early non-pigmented choroidal melanoma (CM) have similar clinical, ultrasound and morphometric features, which in some cases makes their differential diagnosis difficult. There are few studies in the literature devoted to a comparative analysis of the molecular genetic features of CCH and non-pigmented CM, and the results of those studies are contradictory. PURPOSE: This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM. MATERIAL AND METHODS: Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (n=30) and non-pigmented CM (n=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the GNAQ/GNA11 genes were determined by real-time PCR using the analysis of genomic circulating tumor DNA isolated from peripheral blood plasma. The average follow-up period was 12.1±1.8 months. RESULTS: The study revealed a significant association of mutations in exons 4 and 5 of the GNAQ/GNA11 genes with the presence of non-pigmented CM (27/30; 90%). These mutations were not detected in the group of patients with CCH. Mutations in exons 4 and 5 of the GNAQ/GNA11 genes were also not detected in the control group of healthy individuals. CONCLUSION: This study proposes a method of non-invasive and low-cost differential diagnostics based on molecular genetic analysis and detection of mutations in exons 4 and 5 of the GNAQ and GNA11 genes, which are specific for CM (90%).
Choroid Neoplasms , Hemangioma , Melanoma , Humans , Choroid Neoplasms/genetics , Choroid Neoplasms/diagnosis , Male , Female , Middle Aged , Diagnosis, Differential , Hemangioma/genetics , Hemangioma/diagnosis , Adult , Melanoma/genetics , Melanoma/diagnosis , GTP-Binding Protein alpha Subunits, Gq-G11/genetics , Mutation , Choroid/diagnostic imaging , Choroid/pathology , GTP-Binding Protein alpha Subunits/genetics , Prospective Studies
AIM: to analyze survival rates in uveal melanoma (UM) patients and establish correlations with chromosome 3 monosomy, chromosome 1p deletion, and RASSF1A methylation. MATERIAL AND METHODS: Methylation-specific PCR analysis was performed in 104 patients with histologically verified UM. RESULTS: A statistically significant correlation has been found between chromosome 3 monosomy, on the one hand, and mixed/epithelioid cell melanomas and ciliary body involvement, on the other. As for chromosome 1p deletion, it has demonstrated association with extrabulbar tumor growth. We have also calculated 5-year survival and mortality rates in «large¼ UMs and their relationship with chromosome 3 monosomy, chromosome 1p deletion, and RASSF1A methylation. CONCLUSION: Chromosome 3 monosomy is associated with lower survival rates, while RASSF1A methylation - with a better prognosis. A combination of molecular and genetic changes (particularly, chromosome 3 monosomy and chromosome 1p deletion) also leads to reduced survival in UM patients.
The paper presents an integrated analysis of clinical, instrumental, and morphological data on a very rare pathological condition-- simultaneous ocular and orbital involvement in a lymphoproliferative disorder.
Eye Neoplasms/diagnosis , Lymphoma, Non-Hodgkin/diagnosis , Orbital Neoplasms/diagnosis , Combined Modality Therapy , Diagnosis, Differential , Eye Neoplasms/therapy , Humans , Lymphoma, Non-Hodgkin/therapy , Male , Middle Aged , Ophthalmoscopy , Orbital Neoplasms/therapy , Tomography, X-Ray Computed , Ultrasonography, Doppler, Duplex
