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Molecular testing is a promising approach to differential diagnostics and especially to prognostication of uveal melanoma (UM). We have tested a complex biomarker panel that included pathology and a number of cytogenetic and molecular markers on a series of 58 UM samples as a part of a prospective clinical study. Testing of all biomarkers has proved feasible on both FFPE and FNA samples. Molecular verification of UM diagnosis via mutation analysis demonstrated very high sensitivity. Cytogenetic and molecular genetic classifications gave discordant results in most samples from our series; prognostic significance of this discrepancy is yet to be elucidated through final data analysis of this and other prospective studies.References
Siegel R.L., Miller K.D., Jemal A. Cancer statistics, 2016 // CA: a Cancer Journal for Clinicians. - 2016. - Vol. 66 (1). - P 7-30. - DOI: 10.3322/caac.21332
Yang J., Manson D.K., Marr B.P, Carvajal R.D. Treatment of uveal melanoma: where are we now? // Ther Adv Med Oncol. - 2018. - Vol. 10. - P. 1758834018757175. - DOI: 10.1177/1758834018757175
Nathan P., Cohen V., Coupland S. et al. Uveal melanoma UK national guidelines // European Journal of Cancer. -2016. - Vol. 51(16). - P. 2404-2412. - 10.1016/j. ejca.2015.07.013. DOI: 10.1016/j.ejca.2015.07.013
Damato B. E., Heimann H., Kalirai H., Coupland S. E. Age, survival predictors, and metastatic death in patients with choroidal melanoma: tentative evidence of a therapeutic effect on survival // JAMA Ophthalmol. - 2014. -Vol. 132(5). - P 605-613. - DOI: 10.1001/jamaophthal-mol.2014.77
Carvajal R.D., Schwartz G.K., Tezel T. et al. Metastatic disease from uveal melanoma: treatment options and future prospects // British Journal of Ophthalmology. - 2016. -. DOI: 10.1136/bjophthalmol-2016-309034
Correa Z.M. Assessing Prognosis in Uveal Melanoma // Cancer Control. - 2016. - Vol. 23(2). - P 93-98.
Berus T., Halon A., Markiewicz A. et al. Clinical, Histopathological and Cytogenetic Prognosticators in Uveal Melanoma - A Comprehensive Review // Anticancer Res. - 2017. - Vol. 37(12). - P. 6541-6549.
Amaro A., Gangemi R., Piaggio F. et al. The biology of uveal melanoma // Cancer Metastasis Rev. - 2017. - Vol. 36(1). - P 109-140. - DOI: 10.1007/s10555-017-9663-3
Sisley K., Rennie I. G., Parsons M. A. et al. Abnormalities of chromosomes 3 and 8 in posterior uveal melanoma correlate with prognosis // Genes, Chromosomes & Cancer. -1997. - Vol. 19(1). - P. 22-28. - DOI: 10.1002/(SICI)1098-2264(199705)19:13.0.CO;2-2
van den Bosch T., van Beek J. G., Vaarwater J. et al. Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis // Investigative Ophthalmology & Visual Science. - 2012. - Vol. 53(6). - P. 2668-2674. -. DOI: 10.1167/iovs.11-8697
Yavuzyigitoglu S., Koopmans A.E., Verdijk R.M. et al. Uveal melanomas with SF3B1 mutations: a distinct subclass associated with late-onset metastases // Ophthalmology. - 2016. - Vol. 123(5). - P 1118-1128. - 10.1016/j. ophtha.2016.01.023. DOI: 10.1016/j.ophtha.2016.01.023
Martin M., Masshofer L., Temming P, et al. Exome sequencing identifies recurrent somaticmutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 // Nature Genetics. - 2013. - 45(8). - P933-936. - 10.1038/ ng.2674. DOI: 10.1038/ng.2674
Ewens K.G., Kanetsky P.A., Richards-Yutz J. et al. Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma // Investigative Ophthalmology & Visual Science. -2014. - Vol. 55(8). - P 5160-5167. - 10.1167/ iovs.14-14550. DOI: 10.1167/iovs.14-14550
Onken M.D., Worley L.A., Ehlers J.P, Harbour, J.W. Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death // Cancer Research. - 2004. - Vol. 64(20). - P. 7205-7209. -. DOI: 10.1158/0008-5472.CAN-04-1750
Onken M.D., Worley L.A., Char D.H. et al. Collaborative Ocular Oncology Group report number 1: prospective validation of a multi-gene prognostic assay in uveal melanoma // Ophthalmology. - 2012. - Vol. 119(8). - P. 1596-1603. - DOI: 10.1016/j.ophtha.2012.02.017
Field M.G., Durante M.A., Decatur C.L. et al. Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in class 1 and class 2 uveal melanomas // Oncotarget. - 2016. -Vol. 7(37). - P 59209-59219. - DOI: 10.18632/oncotar-get.10962
Robertson A.G., Shih J., Yau C. et al. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma // Cancer Cell. - 2017. - Vol. 32(2). - P 204-220.e15. - DOI: 10.1016/j.ccell.2017.07.003
Eleuteri A., Damato B., Coupland S. E., Taktak A. Enhancing survival prognostication in patients with choroidal melanoma by integrating pathologic, clinical and genetic predictors of metastases // Int. J. Biomed Eng. Technol. - 2012. - Vol. 8. - P 18-35.
DeParis S.W., Taktak A., Eleuteri A. et al. External Validation of the Liverpool Uveal Melanoma Prognosticato r Online // Investigative Ophthalmology & Visual Science. - 2016. - Vol. 57(14). - P. 6116-6122. - DOI: 10.1167/iovs.16-19654
Walter S.D., Chao D.L., Feuer W. et al. Prognostic Implications of Tumor Diameter in Association With Gene Expression Profile for Uveal Melanoma // JAMA Ophthalmol. - 2016. - Vol. 134(7). - P. 734740. - DOI: 10.1001/jamaophthalmol.2016.0913
Vaquero-Garcia J., Lalonde E., Ewens K.G. et al. PRiMeUM: A Model for Predicting Risk of Metastasis in Uveal Melanoma // Investigative Ophthalmology & Visual Science. - 2017. - Vol. 58(10). - P. 40964105. - DOI: 10.1167/iovs.17-22255
Shields C.L., Say E.A.T., Hasanreisoglu M. et al. Personalized Prognosis of Uveal Melanoma Based on Cytogenetic Profile in 1059 Patients over an 8-Year Period: The 2017 Harry S. Gradle Lecture // Ophthalmology. - 2017. - Vol. 124(10). - P. 15231531. - DOI: 10.1016/j.ophtha.2017.04.003
Яровая В.А., Клеянкина С.С., Яровой A.A. и др. Прогностическая» биопсия меланомы хориоидеи: техника, морфологическая и молекулярногенетическая диагностика // Современные технологии в офтальмологии. - 2017. - № 1. - C. 375-377.
Singh A.D., Aronow M.E., Sun Y. et al. Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array // Investigative Ophthalmology & Visual Science. - 2012. - Vol. 53(7). - P. 3331-3339. - DOI: 10.1167/iovs.11-9027
van de Nes J. A., Nelles J. et al. Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanoma // The American Journal of Surgical Pathology. - 2016. - Vol. 40(6). - P. 796-805. - 10.1097/ PAS.0000000000000645 DOI: 10.1097/PAS.0000000000000645
Sellam A., Desjardins L., Barnhill R. et al. Fine Needle Aspiration Biopsy in Uveal Melanoma: Technique, Complications, and Outcomes // Am. J. Ophthalmol. - 2016. - Vol. 162. - P. 28-34.
Edge S.B., Brookland K.B., Jessup J.M. et al. AJCC Cancer Staging Manual: 8th Edition. - Springer, 2017.
Klufas M.A., Richter E., Itty S. et al. Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma // Ocul. Oncol. Pathol. - 2017. - Vol. 4(1). - P. 16-20. - DOI: 10.1159/000468941
Bellerive C., Grossniklaus H.E., Singh A.D. Prognostication for Uveal Melanoma: Are Two Tests Better than One? // Ocul. Oncol. Pathol. - 2017. - Vol. 3(4). - P. 301-303. - DOI: 10.1159/000472153
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