What Sets Uveal Melanoma Apart, and How Can We Address It? A Comprehensive Review of Pathophysiology, Diagnosis and Treatment
DOI:
https://doi.org/10.12775/QS.2024.23.55123Keywords
non-cutaneous melanoma, ocular melanoma, uveal melanoma, GNAQ, GNA11, transpupillary thermotherapyAbstract
Uveal melanoma (UM) is a serious condition requiring immediate medical attention. It is the most common primary intraocular cancer in adults, with an incidence of around 5.2 cases per million people annually. Nearly half of UM patients develop metastatic disease, most often affecting the liver. UM refers to any malignant tumor arising from melanocytes in the uveal tract, which includes the iris, ciliary body, and choroid. Treatment options for UM depend on several factors, including tumor size, location, and the patient's overall health. These options may include radiation therapy, surgery, laser treatments, targeted therapies, and immunotherapy. UM is often described as an immune-privileged tumor, with a distinct immune profile compared to cutaneous melanoma (CM). This article aims to highlight the unique characteristics and challenges associated with this rare form of melanoma. By providing detailed information, the article seeks to enhance understanding and management of this rare form of melanoma.
References
Heistein JB, Acharya U, Mukkamalla SKR. Malignant Melanoma. [Updated 2024 Feb 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470409/
Guo, W., Wang, H., & Li, C. (2021). Signal pathways of melanoma and targeted therapy. Signal transduction and targeted therapy, 6(1), 424. https://doi.org/10.1038/s41392-021-00827-6
Leonardi, G. C., Falzone, L., Salemi, R., Zanghì, A., Spandidos, D. A., Mccubrey, J. A., Candido, S., & Libra, M. (2018). Cutaneous melanoma: From pathogenesis to therapy (Review). International journal of oncology, 52(4), 1071–1080. https://doi.org/10.3892/ijo.2018.4287
Murphy, G., Hussey, D., & Metser, U. (2014). Non-cutaneous melanoma: is there a role for (18)F-FDG PET-CT?. The British journal of radiology, 87(1040), 20140324. https://doi.org/10.1259/bjr.20140324
Nora V. Laver, Margaret E. McLaughlin, Jay S. Duker; Ocular Melanoma. Arch Pathol Lab Med 1 December 2010; 134 (12): 1778–1784. doi: https://doi.org/10.5858/2009-0441-RAR.1
Wong, V. K., Lubner, M. G., Menias, C. O., Mellnick, V. M., Kennedy, T. A., Bhalla, S., & Pickhardt, P. J. (2017). Clinical and Imaging Features of Noncutaneous Melanoma. AJR. American journal of roentgenology, 208(5), 942–959. https://doi.org/10.2214/AJR.16.16800
Eye Cancer. (Ocular Melanoma). American Cancer Society. https://www.cancer.org/cancer/types/eye-cancer/about.html (accessed on 23.07.2024)
Kaliki, S., & Shields, C. L. (2017). Uveal melanoma: relatively rare but deadly cancer. Eye (London, England), 31(2), 241–257. https://doi.org/10.1038/eye.2016.275
Doherty RE, Alfawaz M, Francis J, et al. Genetics of Uveal Melanoma. In: Scott JF, Gerstenblith MR, editors. Noncutaneous Melanoma [Internet]. Brisbane (AU): Codon Publications; 2018 Mar. Chapter 2. Available from: https://www.ncbi.nlm.nih.gov/books/NBK506982/ doi: 10.15586/codon.noncutaneousmelanoma.2018.ch2
van Weeghel C, Wierenga APA, Versluis M, van Hall T, van der Velden PA, Kroes WGM, Pfeffer U, Luyten GPM, Jager MJ. Do GNAQ and GNA11 Differentially Affect Inflammation and HLA Expression in Uveal Melanoma? Cancers. 2019; 11(8):1127. https://doi.org/10.3390/cancers11081127
Bronkhorst, I. H., & Jager, M. J. (2013). Inflammation in uveal melanoma. Eye (London, England), 27(2), 217–223. https://doi.org/10.1038/eye.2012.253
Key Statistics for Eye Cancer. https://www.cancer.org/cancer/types/eye-cancer/about/key-statistics.html (accessed on 29.07.2024)
Intraocular (Uveal) Melanoma Treatment (PDQ) - Patient Version. https://www.cancer.gov/types/eye/patient/intraocular-melanoma-treatment-pdq (accessed on 12.08.2024)
Fuentes-Rodriguez, A.; Mitchell, A.; Guérin, S.L.; Landreville, S. Recent Advances in Molecular and Genetic Research on Uveal Melanoma. Cells 2024, 13, 1023. https://doi.org/10.3390/cells13121023
Choroidal and Ciliary Body Melanoma. https://eyewiki.org/Choroidal_and_Ciliary_Body_Melanoma#Symptoms (accessed on 13.08.2024)
Koopmans, A., Vaarwater, J., Paridaens, D. et al. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer 109, 493–496 (2013). https://doi.org/10.1038/bjc.2013.299
Jager, M.J., Shields, C.L., Cebulla, C.M. et al. Uveal melanoma. Nat Rev Dis Primers 6, 24 (2020). https://doi.org/10.1038/s41572-020-0158-0
Silva-Rodríguez, P., Fernández-Díaz, D., Bande, M., Pardo, M., Loidi, L., & Blanco-Teijeiro, M. J. (2022). GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma. Cancers, 14(13), 3066. https://doi.org/10.3390/cancers14133066
Decatur, C. L., Ong, E., Garg, N., Anbunathan, H., Bowcock, A. M., Field, M. G., & Harbour, J. W. (2016). Driver Mutations in Uveal Melanoma: Associations With Gene Expression Profile and Patient Outcomes. JAMA ophthalmology, 134(7), 728–733. https://doi.org/10.1001/jamaophthalmol.2016.0903
Uner, O.E., See, T.R.O., Szalai, E. et al. Estimation of the timing of BAP1 mutation in uveal melanoma progression. Sci Rep 11, 8923 (2021). https://doi.org/10.1038/s41598-021-88390-6
Drabarek W, van Riet J, Nguyen JQN, Smit KN, van Poppelen NM, Jansen R, Medico-Salsench E, Vaarwater J, Magielsen FJ, Brands T, et al. Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma. Cancers. 2022; 14(3):846. https://doi.org/10.3390/cancers14030846
Nguyen JQN, Drabarek W, Yavuzyigitoglu S, Medico Salsench E, Verdijk RM, Naus NC, de Klein A, Kiliç E, Brosens E. Spliceosome Mutations in Uveal Melanoma. International Journal of Molecular Sciences. 2020; 21(24):9546. https://doi.org/10.3390/ijms21249546
Grover, P., Goel, P. N., & Greene, M. I. (2021). Regulatory T Cells: Regulation of Identity and Function. Frontiers in immunology, 12, 750542. https://doi.org/10.3389/fimmu.2021.750542
Kaliki, S., Shields, C. L., & Shields, J. A. (2015). Uveal melanoma: estimating prognosis. Indian journal of ophthalmology, 63(2), 93–102. https://doi.org/10.4103/0301-4738.154367
Lamas, N. J., Martel, A., Nahon-Estève, S., Goffinet, S., Macocco, A., Bertolotto, C., Lassalle, S., & Hofman, P. (2021). Prognostic Biomarkers in Uveal Melanoma: The Status Quo, Recent Advances and Future Directions. Cancers, 14(1), 96. https://doi.org/10.3390/cancers14010096
Uveal Melanoma. Melanoma Research Alliance. https://www.curemelanoma.org/about-melanoma/types/uveal-melanoma (accessed on 14.08.2024)
Rutkowski P., Romanowska-Dixon B., Markiewicz A., Zieniewicz K., Kozak K., Rogala P., Świtaj T. (2022). Diagnostic and therapeutic management of patients with ocular melanomas - recommendations of the Polish Society of Oncology. http://doi.org/10.5603/NJO.2022.0054
Harbour J. W. (2014). A prognostic test to predict the risk of metastasis in uveal melanoma based on a 15-gene expression profile. Methods in molecular biology (Clifton, N.J.), 1102, 427–440. https://doi.org/10.1007/978-1-62703-727-3_22
Tarlan, B., & Kıratlı, H. (2016). Uveal Melanoma: Current Trends in Diagnosis and Management. Turkish journal of ophthalmology, 46(3), 123–137. https://doi.org/10.4274/tjo.37431
Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP. Uveal melanoma: From diagnosis to treatment and the science in between. Cancer. 2016 Aug 1;122(15):2299-312. https://doi.org/10.1002/cncr.29727
Branisteanu, D. C., Bogdanici, C. M., Branisteanu, D. E., Maranduca, M. A., Zemba, M., Balta, F., Branisteanu, C. I., & Moraru, A. D. (2021). Uveal melanoma diagnosis and current treatment options (Review). Experimental and therapeutic medicine, 22(6), 1428. https://doi.org/10.3892/etm.2021.10863
Gong, L., Zhang, Y., Liu, C., Zhang, M., & Han, S. (2021). Application of Radiosensitizers in Cancer Radiotherapy. International journal of nanomedicine, 16, 1083–1102. https://doi.org/10.2147/IJN.S290438
Gelmi, M. C., & Jager, M. J. (2024). Uveal melanoma: Current evidence on prognosis, treatment and potential developments. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), 13(2), 100060. https://doi.org/10.1016/j.apjo.2024.100060
Hamza, H. S., & Elhusseiny, A. M. (2018). Choroidal Melanoma Resection. Middle East African journal of ophthalmology, 25(2), 65–70. https://doi.org/10.4103/meajo.MEAJO_73_18
Dogrusöz, M., Jager, M. J., & Damato, B. (2017). Uveal Melanoma Treatment and Prognostication. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), 6(2), 186–196. https://doi.org/10.22608/APO.201734
Maheshwari, A., & Finger, P. T. (2023). Laser treatment for choroidal melanoma: Current concepts. Survey of ophthalmology, 68(2), 211–224. https://doi.org/10.1016/j.survophthal.2022.05.002
Hoffner, B., & Benchich, K. (2018). Trametinib: A Targeted Therapy in Metastatic Melanoma. Journal of the advanced practitioner in oncology, 9(7), 741–745. HTTPS://DOI.ORG/10.6004/JADPRO.2018.9.7.5
Amaro, A. A., Gangemi, R., Emionite, L., Castagnola, P., Filaci, G., Jager, M. J., Tanda, E. T., Spagnolo, F., Mascherini, M., Pfeffer, U., & Croce, M. (2023). Cerivastatin Synergizes with Trametinib and Enhances Its Efficacy in the Therapy of Uveal Melanoma. Cancers, 15(3), 886. https://doi.org/10.3390/cancers15030886
Kim, D. W., & Patel, S. P. (2014). Profile of selumetinib and its potential in the treatment of melanoma. OncoTargets and therapy, 7, 1631–1639. https://doi.org/10.2147/OTT.S51596
Castet, F., Garcia-Mulero, S., Sanz-Pamplona, R., Cuellar, A., Casanovas, O., Caminal, J. M., & Piulats, J. M. (2019). Uveal Melanoma, Angiogenesis and Immunotherapy, Is There Any Hope?. Cancers, 11(6), 834. https://doi.org/10.3390/cancers11060834
Paduszyńska, N., Dąbrowska, A., Gonciarz, M. J., Zaliwska, D., Czach, M., Strojny, A. A., Adamiec, D. K., Kraszkiewicz, A., Kamińska, M. A., & Do, M. K. (2024). Comprehensive insights into uveal melanoma – risk factors, pathophysiology, prognosis, and diagnostic approaches. Quality in Sport, 20, 53772. https://doi.org/10.12775/QS.2024.20.53772
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Karina Lissak, Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Martyna Choinka, Małgorzata Komarów, Dominika Karasińska, Jakub Kalisiak, Mateusz Koralewicz, Milena Orzeł, Bartłomiej Orzeł
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Stats
Number of views and downloads: 153
Number of citations: 0
