{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T16:36:47Z","timestamp":1781282207745,"version":"3.54.1"},"reference-count":96,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Bontius Foundation"},{"name":"Oogfonds"},{"name":"the Sam Fund"},{"name":"the LUF"},{"name":"P.A. Jager-van Gelder Fund"},{"name":"the Blinden-Penning foundation"},{"name":"ASROO (Associazione Scientifica Retinoblastoma ed Oncologia Oculare)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Microphthalmia-associated transcription factor (MITF) is an important regulator of melanogenesis and melanocyte development. In cutaneous melanoma, MITF loss has been linked to an increased expression of stem cell markers, a shift in epithelial-to-mesenchymal transition (EMT)-related factors, and increased inflammation. We explored the role of MITF in Uveal Melanoma (UM) using a cohort of 64 patients enucleated at the Leiden University Medical Center. We analysed the relation between MITF expression and clinical, histopathological and genetic features of UM, as well as survival. We performed differential gene expression and gene set enrichment analysis using mRNA microarray data, comparing MITF-low with MITF-high UM. MITF expression was lower in heavily pigmented UM than in lightly pigmented UM (p = 0.003), which we confirmed by immunohistochemistry. Furthermore, MITF was significantly lower in UM with monosomy 3\/BAP1 loss than in those with disomy 3\/no BAP1 loss (p &lt; 0.001) and with 8q gain\/amplification 8q (p = 0.02). Spearman correlation analysis showed that a low MITF expression was associated with an increase in inflammatory markers, hallmark pathways involved in inflammation, and epithelial-mesenchymal transition. Similar to the situation in cutaneous melanoma, we propose that MITF loss in UM is related to de-differentiation to a less favourable EMT profile and inflammation.<\/jats:p>","DOI":"10.3390\/ijms24108861","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T02:04:05Z","timestamp":1684289045000},"page":"8861","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Microphthalmia-Associated Transcription Factor: A Differentiation Marker in Uveal Melanoma"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9099-009X","authenticated-orcid":false,"given":"Maria Chiara","family":"Gelmi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1437-214X","authenticated-orcid":false,"given":"Robert M.","family":"Verdijk","sequence":"additional","affiliation":[{"name":"Department of Pathology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands"},{"name":"Department of Pathology, Section Ophthalmic Pathology, Erasmus MC University Medical Center, 3000 CA Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1646-3723","authenticated-orcid":false,"given":"Laurien E.","family":"Houtzagers","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter A.","family":"van der Velden","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilma G. M.","family":"Kroes","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregorius P. M.","family":"Luyten","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. H. Khanh","family":"Vu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2261-3820","authenticated-orcid":false,"given":"Martine J.","family":"Jager","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-020-0158-0","article-title":"Uveal melanoma","volume":"6","author":"Jager","year":"2020","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1001\/archophthalmol.2009.208","article-title":"Metastasis of uveal melanoma millimeter-by-millimeter in 8033 consecutive eyes","volume":"127","author":"Shields","year":"2009","journal-title":"Arch. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1016\/j.ophtha.2011.01.040","article-title":"Uveal melanoma: Trends in incidence, treatment, and survival","volume":"118","author":"Singh","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000509918","article-title":"Five Decades of Enucleations for Uveal Melanoma in One Center: More Tumors with High Risk Factors, No Improvement in Survival over Time","volume":"7","author":"Roelofsen","year":"2021","journal-title":"Ocul. Oncol. Pathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0039-6257(96)80024-5","article-title":"Prognostic parameters in uveal melanoma: A review","volume":"41","author":"Mooy","year":"1996","journal-title":"Surv. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1126\/science.1194472","article-title":"Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas","volume":"330","author":"Harbour","year":"2010","journal-title":"Science"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/0165-4608(90)90090-W","article-title":"Monosomy 3 and Isochromosome 8q in a Uveal Melanoma","volume":"45","author":"Horsman","year":"1990","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3703","DOI":"10.1167\/iovs.06-0101","article-title":"Clinical and Cytogenetic Analyses in Uveal Melanoma","volume":"47","author":"Kilic","year":"2006","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.1167\/iovs.08-3165","article-title":"Multiplex ligation-dependent probe amplification of uveal melanoma: Correlation with metastatic death","volume":"50","author":"Damato","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/aos.13580","article-title":"Genetic prognostication in uveal melanoma","volume":"96","author":"Dogrusoz","year":"2018","journal-title":"Acta Ophthalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"7205","DOI":"10.1158\/0008-5472.CAN-04-1750","article-title":"Gene Expression Profiling in Uveal Melanoma Reveals Two Molecular Classes and Predicts Metastatic Death","volume":"64","author":"Onken","year":"2004","journal-title":"Cancer Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/978-1-62703-727-3_22","article-title":"A prognostic test to predict the risk of metastasis in uveal melanoma based on a 15-gene expression profile","volume":"1102","author":"Harbour","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1038\/eye.2015.51","article-title":"Prognosis of uveal melanoma based on race in 8100 patients: The 2015 Doyne Lecture","volume":"29","author":"Shields","year":"2015","journal-title":"Eye"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1001\/archopht.1977.04450010050004","article-title":"Prognostic Factors in Small Malignant Melanomas of Choroid and Ciliary Body","volume":"95","author":"McLean","year":"1977","journal-title":"Arch. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1001\/archopht.1983.01040020896012","article-title":"A Prognostic Factor Study of Disease-Free Interval and Survival Following Enucleation for Uveal Melanoma","volume":"101","author":"Seddon","year":"1983","journal-title":"Arch. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"100297","DOI":"10.1016\/j.xops.2023.100297","article-title":"Increased histological tumour pigmentation in Uveal Melanoma is related to eye colour and loss of chromosome 3\/BAP1","volume":"3","author":"Gelmi","year":"2023","journal-title":"Ophthalmol. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Gelmi, M.C., Houtzagers, L.E., Strub, T., Krossa, I., and Jager, M.J. (2022). MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23116001"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.drudis.2016.09.016","article-title":"Downregulation of melanogenesis: Drug discovery and therapeutic options","volume":"22","author":"Pillaiyar","year":"2017","journal-title":"Drug Discov. Today"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/0092-8674(93)90429-T","article-title":"Mutations at the Mouse Microphthalmia Locus Are Associated with Defects in a Gene Encoding a Novel Basic-Helix-Loop-Helix-Zipper Protein","volume":"74","author":"Hodgkinson","year":"1993","journal-title":"Cell"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.cell.2010.05.004","article-title":"Lineage-specific transcriptional regulation of DICER by MITF in melanocytes","volume":"141","author":"Levy","year":"2010","journal-title":"Cell"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/S0092-8674(02)00762-6","article-title":"Bcl2 Regulation by the Melanocyte Master Regulator Mitf Modulates Lineage Survival and Melanoma Cell Viability","volume":"109","author":"McGill","year":"2002","journal-title":"Cell"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1158\/0008-5472.CAN-07-2491","article-title":"In vivo switching of human melanoma cells between proliferative and invasive states","volume":"68","author":"Hoek","year":"2008","journal-title":"Cancer Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1038\/onc.2010.598","article-title":"Mitf is the key molecular switch between mouse or human melanoma initiating cells and their differentiated progeny","volume":"30","author":"Cheli","year":"2011","journal-title":"Oncogene"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1111\/j.1755-148X.2010.00757.x","article-title":"Cancer stem cells versus phenotype-switching in melanoma","volume":"23","author":"Hoek","year":"2010","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Matatall, K.A., Agapova, O.A., Onken, M.D., Worley, L.A., Bowcock, A.M., and Harbour, J.W. (2013). BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer, 13.","DOI":"10.1186\/1471-2407-13-371"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/S0014-4835(03)00082-4","article-title":"Microphthalmia transcription factor analysis in posterior uveal melanomas","volume":"76","author":"Mouriaux","year":"2003","journal-title":"Exp. Eye Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"e2107006119","DOI":"10.1073\/pnas.2107006119","article-title":"MITF deficiency accelerates GNAQ-driven uveal melanoma","volume":"119","author":"Phelps","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1111\/pcmr.12700","article-title":"Uveal melanoma driver mutations in GNAQ\/11 yield numerous changes in melanocyte biology","volume":"31","author":"Perez","year":"2018","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/S0198-8859(02)00389-0","article-title":"HLA Expression in Uveal Melanoma: There is No Rule without Some Exception","volume":"63","author":"Jager","year":"2002","journal-title":"Hum. Immunol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1167\/iovs.10-5979","article-title":"Detection of M2-macrophages in uveal melanoma and relation with survival","volume":"52","author":"Bronkhorst","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_31","first-page":"2153","article-title":"Association of HLA Class I and Class II Antigen Expression and Mortality in Uveal Melanoma","volume":"42","author":"Ericsson","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1007\/s00262-017-1991-1","article-title":"Genetic evolution of uveal melanoma guides the development of an inflammatory microenvironment","volume":"66","author":"Gezgin","year":"2017","journal-title":"Cancer Immunol. Immunother."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ccell.2017.07.003","article-title":"Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma","volume":"32","author":"Robertson","year":"2017","journal-title":"Cancer Cell"},{"key":"ref_34","first-page":"1421","article-title":"Roles of inflammation factors in melanogenesis (Review)","volume":"21","author":"Fu","year":"2020","journal-title":"Mol. Med. Rep."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1006\/jtbi.1993.1142","article-title":"Melanocytes as \u201csensory\u201d and regulatory cells in the epidermis","volume":"164","author":"Slominski","year":"1993","journal-title":"J. Theor. Biol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1111\/j.1600-0625.2009.00892.x","article-title":"Neuroendocrine activity of the melanocyte","volume":"18","author":"Slominski","year":"2009","journal-title":"Exp. Dermatol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1111\/j.1600-0625.2009.00912.x","article-title":"What are melanocytes really doing all day long...?","volume":"18","author":"Plonka","year":"2009","journal-title":"Exp. Dermatol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"7284","DOI":"10.4049\/jimmunol.151.12.7284","article-title":"A novel, antigen-presenting function of melanocytes and its possible relationship to hypopigmentary disorders","volume":"151","author":"Mutis","year":"1993","journal-title":"J. Immunol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1006\/excr.1993.1102","article-title":"Phagocytosis by normal human melanocytes in vitro","volume":"205","author":"Westerhof","year":"1993","journal-title":"Exp. Cell Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.exer.2018.04.014","article-title":"Human choroidal melanocytes express functional Toll-like receptors (TLRs)","volume":"173","author":"Cioanca","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.jdermsci.2009.08.003","article-title":"Cultured human melanocytes express functional toll-like receptors 2-4, 7 and 9","volume":"56","author":"Yu","year":"2009","journal-title":"J. Dermatol. Sci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"8755","DOI":"10.1038\/ncomms9755","article-title":"MITF and c-Jun antagonism interconnects melanoma dedifferentiation with pro-inflammatory cytokine responsiveness and myeloid cell recruitment","volume":"6","author":"Riesenberg","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.ccr.2013.08.018","article-title":"A switch in the expression of embryonic EMT-inducers drives the development of malignant melanoma","volume":"24","author":"Caramel","year":"2013","journal-title":"Cancer Cell"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1038\/cdd.2014.44","article-title":"Identification of a ZEB2-MITF-ZEB1 transcriptional network that controls melanogenesis and melanoma progression","volume":"21","author":"Denecker","year":"2014","journal-title":"Cell Death Differ."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2983","DOI":"10.1158\/0008-5472.CAN-19-2373","article-title":"The EMT Transcription Factor ZEB2 Promotes Proliferation of Primary and Metastatic Melanoma While Suppressing an Invasive, Mesenchymal-Like Phenotype","volume":"80","author":"Vandamme","year":"2020","journal-title":"Cancer Res."},{"key":"ref_46","first-page":"919","article-title":"EMT-associated factors promote invasive properties of uveal melanoma cells","volume":"21","author":"Asnaghi","year":"2015","journal-title":"Mol. Vis."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Arts, N., Cane, S., Hennequart, M., Lamy, J., Bommer, G., Van den Eynde, B., and De Plaen, E. (2015). microRNA-155, induced by interleukin-1ss, represses the expression of microphthalmia-associated transcription factor (MITF-M) in melanoma cells. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0122517"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/s13046-021-01916-8","article-title":"MITF induces escape from innate immunity in melanoma","volume":"40","author":"Montenegro","year":"2021","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1159\/000334576","article-title":"Uveal melanoma: The inflammatory microenvironment","volume":"4","author":"Bronkhorst","year":"2012","journal-title":"J. Innate Immun."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.tranon.2018.10.014","article-title":"Microphthalmia-Associated Transcription Factor (MITF) Regulates Immune Cell Migration into Melanoma","volume":"12","author":"Wiedemann","year":"2019","journal-title":"Transl. Oncol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"eaaw5473","DOI":"10.1126\/science.aaw5473","article-title":"Metabolic reprogramming and cancer progression","volume":"368","author":"Faubert","year":"2020","journal-title":"Science"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/ng1194-251","article-title":"Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene","volume":"8","author":"Tassabehji","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0002-9440(10)65172-3","article-title":"Microphthalmia transcription factor. A sensitive and specific melanocyte marker for MelanomaDiagnosis","volume":"155","author":"King","year":"1999","journal-title":"Am. J. Pathol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/modpathol.3880249","article-title":"Clear cell sarcoma shows immunoreactivity for microphthalmia transcription factor: Further evidence for melanocytic differentiation","volume":"14","author":"Granter","year":"2001","journal-title":"Mod. Pathol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1097\/00129039-200203000-00008","article-title":"Role for microphthalmia transcription factor in the diagnosis of metastatic malignant melanoma","volume":"10","author":"Granter","year":"2002","journal-title":"Appl. Immunohistochem. Mol. Morphol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1038\/modpathol.2011.51","article-title":"Frequency, molecular pathology and potential clinical significance of partial chromosome 3 aberrations in uveal melanoma","volume":"24","author":"Christopher","year":"2011","journal-title":"Mod. Pathol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1001\/jamaophthalmol.2019.5403","article-title":"Association of Partial Chromosome 3 Deletion in Uveal Melanomas with Metastasis-Free Survival","volume":"138","author":"Rodrigues","year":"2020","journal-title":"JAMA Ophthalmol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1038\/bjc.2012.54","article-title":"Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: A long-term follow-up study","volume":"106","author":"Thomas","year":"2012","journal-title":"Br. J. Cancer"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.ophtha.2010.05.023","article-title":"Prognosis of Uveal Melanoma in 500 Cases Using Genetic Testing of Fine-Needle Aspiration Biopsy Specimens","volume":"118","author":"Shields","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_60","first-page":"3439","article-title":"Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma","volume":"61","author":"Tschentscher","year":"2001","journal-title":"Cancer Res."},{"key":"ref_61","first-page":"8507","article-title":"Fine mapping of chromosome 3 in uveal melanoma: Identification of a minimal region of deletion on chromosomal arm 3p25.1\u2013p25.2","volume":"63","author":"Parrella","year":"2003","journal-title":"Cancer Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/sj.eye.6701906","article-title":"Multiple locations on chromosome 3 are the targets of specific deletions in uveal melanoma","volume":"20","author":"Cross","year":"2006","journal-title":"Eye"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"4254","DOI":"10.1167\/iovs.08-2033","article-title":"Gene expression profiling in uveal melanoma: Two regions on 3p related to prognosis","volume":"49","author":"Lodder","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Korbecki, J., Bajdak-Rusinek, K., Kupnicka, P., Kapczuk, P., Siminska, D., Chlubek, D., and Baranowska-Bosiacka, I. (2021). The Role of CXCL16 in the Pathogenesis of Cancer and Other Diseases. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22073490"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/s41467-019-14256-1","article-title":"Single-cell analysis reveals new evolutionary complexity in uveal melanoma","volume":"11","author":"Durante","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/path.5384","article-title":"Loss of BAP1 expression is associated with an immunosuppressive microenvironment in uveal melanoma, with implications for immunotherapy development","volume":"250","author":"Figueiredo","year":"2020","journal-title":"J. Pathol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.cca.2017.01.025","article-title":"Using circular RNA hsa_circ_0000190 as a new biomarker in the diagnosis of gastric cancer","volume":"466","author":"Chen","year":"2017","journal-title":"Clin. Chim. Acta"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"5817","DOI":"10.1038\/s41388-019-0845-z","article-title":"The protein secretion modulator TMED9 drives CNIH4\/TGFalpha\/GLI signaling opposing TMED3-WNT-TCF to promote colon cancer metastases","volume":"38","author":"Mishra","year":"2019","journal-title":"Oncogene"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.cca.2020.11.015","article-title":"Long non-coding RNA HCP5 in cancer","volume":"512","author":"Zou","year":"2021","journal-title":"Clin. Chim. Acta"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1001\/archophthalmol.2010.180","article-title":"Identification of Candidate Tumor Oncogenes by Integrative Molecular Analysis of Choroidal Melanoma Fine-Needle Aspiration Biopsy Specimens","volume":"128","author":"McCannel","year":"2010","journal-title":"Arch. Ophthalmol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/nature02371","article-title":"A large-scale RNAi screen in human cells identifies new components of the p53 pathway","volume":"428","author":"Berns","year":"2004","journal-title":"Nature"},{"key":"ref_72","first-page":"603","article-title":"New p53 related genes in human tumors: Significant downregulation in colon and lung carcinomas","volume":"16","author":"Lleonart","year":"2006","journal-title":"Oncol. Rep."},{"key":"ref_73","first-page":"2578","article-title":"Tumor Classification Based on Gene Expression Profiling Shows That Uveal Melanomas with and without Monosomy 3 Represent Two Distinct Entities","volume":"63","author":"Tschentscher","year":"2003","journal-title":"Cancer Res."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13578-019-0290-2","article-title":"LncRNA SNHG7 promotes pancreatic cancer proliferation through ID4 by sponging miR-342-3p","volume":"9","author":"Cheng","year":"2019","journal-title":"Cell Biosci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s13045-018-0632-2","article-title":"Long non-coding RNA-SNHG7 acts as a target of miR-34a to increase GALNT7 level and regulate PI3K\/Akt\/mTOR pathway in colorectal cancer progression","volume":"11","author":"Li","year":"2018","journal-title":"J. Hematol. Oncol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"e18993","DOI":"10.1097\/MD.0000000000018993","article-title":"Long non-coding RNA small nucleolar RNA host gene 7 expression level in prostate cancer tissues predicts the prognosis of patients with prostate cancer","volume":"99","author":"Xia","year":"2020","journal-title":"Medicine"},{"key":"ref_77","first-page":"1505","article-title":"lncRNA SNHG7 affects malignant tumor behaviors through downregulation of EZH2 in uveal melanoma cell lines","volume":"19","author":"Wu","year":"2020","journal-title":"Oncol. Lett."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Vardanyan, S., Brosig, A., Merz, H., Ranjbar, M., Kakkassery, V., Grisanti, S., and Tura, A. (2020). Metastasis of Uveal Melanoma with Monosomy-3 Is Associated with a Less Glycogenetic Gene Expression Profile and the Dysregulation of Glycogen Storage. Cancers, 12.","DOI":"10.3390\/cancers12082101"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1038\/onc.2011.425","article-title":"Hypoxia and MITF control metastatic behaviour in mouse and human melanoma cells","volume":"31","author":"Cheli","year":"2012","journal-title":"Oncogene"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"E924","DOI":"10.1073\/pnas.1106351108","article-title":"Hypoxia-induced transcriptional repression of the melanoma-associated oncogene MITF","volume":"108","author":"Feige","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.ccr.2013.02.003","article-title":"Oncogenic BRAF regulates oxidative metabolism via PGC1\u03b1 and MITF","volume":"23","author":"Haq","year":"2013","journal-title":"Cancer Cell"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1167\/iovs.07-0786","article-title":"Monosomy of Chromosome 3 and an Inflammatory Phenotype Occur Together in Uveal Melanoma","volume":"49","author":"Maat","year":"2008","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Souri, Z., Wierenga, A.P.A., Kilic, E., Brosens, E., Bohringer, S., Kroes, W.G.M., Verdijk, R.M., van der Velden, P.A., Luyten, G.P.M., and Jager, M.J. (2021). MiRNAs Correlate with HLA Expression in Uveal Melanoma: Both Up- and Downregulation Are Related to Monosomy 3. Cancers, 13.","DOI":"10.3390\/cancers13164020"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/BF00166687","article-title":"Expression of HLA antigens in paraffin sections of uveal melanomas","volume":"30","author":"Jager","year":"1986","journal-title":"Doc. Ophthalmol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1007\/BF00186516","article-title":"HLA expression and tumor-infiltrating immune cells in uveal melanoma","volume":"234","author":"Hilders","year":"1996","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1158\/1541-7786.MCR-18-0114","article-title":"Digital PCR-Based T-cell Quantification-Assisted Deconvolution of the Microenvironment Reveals that Activated Macrophages Drive Tumor Inflammation in Uveal Melanoma","volume":"16","author":"Nell","year":"2018","journal-title":"Mol. Cancer Res."},{"key":"ref_87","first-page":"R1289","article-title":"alpha-MSH and its receptors in regulation of tumor necrosis factor-alpha production by human monocyte\/macrophages","volume":"276","author":"Taherzadeh","year":"1999","journal-title":"Am. J. Physiol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"8016","DOI":"10.1073\/pnas.92.17.8016","article-title":"Evidence of autocrine modulation of macrophage nitric oxide synthase by alpha-melanocyte-stimulating hormone","volume":"92","author":"Star","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"3378","DOI":"10.4049\/jimmunol.158.7.3378","article-title":"Evidence for the differential expression of the functional alpha-melanocyte-stimulating hormone receptor MC-1 on human monocytes","volume":"158","author":"Bhardwaj","year":"1997","journal-title":"J. Immunol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"3231","DOI":"10.1093\/hmg\/11.25.3231","article-title":"SLUG (SNAI2) deletions in patients with Waardenburg disease","volume":"11","author":"Sagrera","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_91","first-page":"6361420","article-title":"miR-31 Functions as an Oncomir Which Promotes Epithelial-Mesenchymal Transition via Regulating BAP1 in Cervical Cancer","volume":"2017","author":"Wang","year":"2017","journal-title":"Biomed Res. Int."},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Versluis, M., de Lange, M.J., van Pelt, S.I., Ruivenkamp, C.A., Kroes, W.G., Cao, J., Jager, M.J., Luyten, G.P., and van der Velden, P.A. (2015). Digital PCR validates 8q dosage as prognostic tool in uveal melanoma. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0116371"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1038\/modpathol.2014.43","article-title":"Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma","volume":"27","author":"Koopmans","year":"2014","journal-title":"Mod. Pathol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1136\/bjophthalmol-2014-305047","article-title":"Prognostic parameters in uveal melanoma and their association with BAP1 expression","volume":"98","author":"Versluis","year":"2014","journal-title":"Br. J. Ophthalmol."},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"van Essen, T.H., van Pelt, S.I., Bronkhorst, I.H.G., Versluis, M., N\u00e9mati, F., Laurent, C., Luyten, G.P.M., van Hall, T., van den Elsen, P.J., and van der Velden, P.A. (2016). Upregulation of HLA Expression in Primary Uveal Melanoma by Infiltrating Leukocytes. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0164292"},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Souri, Z., Wierenga, A.P.A., Mulder, A., Jochemsen, A.G., and Jager, M.J. (2019). HLA Expression in Uveal Melanoma: An Indicator of Malignancy and a Modifiable Immunological Target. 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