Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Melanoma, uveal, susceptibility to, 1(UVM1)

MedGen UID:: 376198
•Concept ID:: C1847724
•: Finding

Synonym:	UVM1

Gene (location): Gene(s) directly associated with this condition or phenotype.	MBD4 (3q21.3)

Monarch Initiative:	MONDO:0011695
OMIM®:	606660

Definition

Uveal melanoma (see 155720) is the most common primary intraocular malignancy. Metastases arise in more than 30% of patients, usually to the liver, with a poor prognosis (median survival of 10 months). Somatic monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease (summary by Tschentscher et al., 2001; Derrien et al., 2021). Treatment with programmed cell death protein-1 inhibitors may result in clinical improvement (Rodrigues et al., 2018). [from OMIM]

Clinical features

From HPO

Uveal melanoma

MedGen UID:: 65077
•Concept ID:: C0220633
•: Neoplastic Process

Uveal melanoma is a highly malignant tumor that arises from the choroid or the ciliary body of the eye. It is the most common primary ocular malignancy in adults, although it has a low incidence (6 cases per 1,000,000 per year). A tendency for hematogenic spread to the liver accounts for up to 50% of patient deaths (summary by Lopez et al., 2007).

See: Feature record | Search on this feature

Abnormality of the eye
- Uveal melanoma

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.

Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, van Doorn R, Wadt K, Hamill M, Torr B, Tischkowitz M; Delphi respondents, Hanson H
Eur J Hum Genet 2023 Nov;31(11):1261-1269. Epub 2023 Aug 22 doi: 10.1038/s41431-023-01448-z. PMID: 37607989 Free PMC Article

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing.

van Poppelen NM, de Bruyn DP, Bicer T, Verdijk R, Naus N, Mensink H, Paridaens D, de Klein A, Brosens E, Kiliҫ E
Int J Mol Sci 2020 Dec 30;22(1) doi: 10.3390/ijms22010336. PMID: 33396957 Free PMC Article

Uveal melanoma: From diagnosis to treatment and the science in between.

Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP
Cancer 2016 Aug 1;122(15):2299-312. Epub 2016 Mar 15 doi: 10.1002/cncr.29727. PMID: 26991400 Free PMC Article

See all (8)

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Melanoma: Uveal, 2023

Recent clinical studies

Etiology

BAP1: Not just a BRCA1-associated protein.

Louie BH, Kurzrock R
Cancer Treat Rev 2020 Nov;90:102091. Epub 2020 Aug 20 doi: 10.1016/j.ctrv.2020.102091. PMID: 32877777 Free PMC Article

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK
J Natl Cancer Inst 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. PMID: 30517737 Free PMC Article

Uveal melanoma: relatively rare but deadly cancer.

Kaliki S, Shields CL
Eye (Lond) 2017 Feb;31(2):241-257. Epub 2016 Dec 2 doi: 10.1038/eye.2016.275. PMID: 27911450 Free PMC Article

Uveal melanoma: From diagnosis to treatment and the science in between.

Melanoma genetics.

Read J, Wadt KA, Hayward NK
J Med Genet 2016 Jan;53(1):1-14. Epub 2015 Sep 3 doi: 10.1136/jmedgenet-2015-103150. PMID: 26337759

See all (54)

Diagnosis

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.

BAP1 Tumour Predisposition Syndrome: A New Mutation in One Family.

Satolli F, de Felici del Giudice MB, Bertolani M, Ricci R, Lotti T, Zucchi A, Feliciani C
Acta Derm Venereol 2019 Oct 1;99(11):1045-1046. doi: 10.2340/00015555-3267. PMID: 31314123

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Uveal melanoma: relatively rare but deadly cancer.

Kaliki S, Shields CL
Eye (Lond) 2017 Feb;31(2):241-257. Epub 2016 Dec 2 doi: 10.1038/eye.2016.275. PMID: 27911450 Free PMC Article

Uveal melanoma: From diagnosis to treatment and the science in between.

See all (40)

Therapy

Targeting the YAP/TAZ Pathway in Uveal and Conjunctival Melanoma With Verteporfin.

Brouwer NJ, Konstantinou EK, Gragoudas ES, Marinkovic M, Luyten GPM, Kim IK, Jager MJ, Vavvas DG
Invest Ophthalmol Vis Sci 2021 Apr 1;62(4):3. doi: 10.1167/iovs.62.4.3. PMID: 33798262 Free PMC Article

Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.

Singh N, Singh R, Bowen RC, Abdel-Rahman MH, Singh AD
Am J Ophthalmol 2021 Apr;224:172-177. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.12.005. PMID: 33316260 Free PMC Article

Uveal Melanoma Risk Factors: A Systematic Review of Meta-Analyses.

Nayman T, Bostan C, Logan P, Burnier MN Jr
Curr Eye Res 2017 Aug;42(8):1085-1093. Epub 2017 May 11 doi: 10.1080/02713683.2017.1297997. PMID: 28494168

Uveal melanoma: relatively rare but deadly cancer.

Kaliki S, Shields CL
Eye (Lond) 2017 Feb;31(2):241-257. Epub 2016 Dec 2 doi: 10.1038/eye.2016.275. PMID: 27911450 Free PMC Article

Intermittent and chronic ultraviolet light exposure and uveal melanoma: a meta-analysis.

Shah CP, Weis E, Lajous M, Shields JA, Shields CL
Ophthalmology 2005 Sep;112(9):1599-607. doi: 10.1016/j.ophtha.2005.04.020. PMID: 16051363

See all (11)

Prognosis

Uveal melanoma immunogenomics predict immunotherapy resistance and susceptibility.

Leonard-Murali S, Bhaskarla C, Yadav GS, Maurya SK, Galiveti CR, Tobin JA, Kann RJ, Ashwat E, Murphy PS, Chakka AB, Soman V, Cantalupo PG, Zhuo X, Vyas G, Kozak DL, Kelly LM, Smith E, Chandran UR, Hsu YS, Kammula US
Nat Commun 2024 Apr 16;15(1):2863. doi: 10.1038/s41467-024-46906-4. PMID: 38627362 Free PMC Article

Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients.

García-Mulero S, Fornelino R, Punta M, Lise S, Varela M, Del Carpio LP, Moreno R, Costa-García M, Rieder D, Trajanoski Z, Gros A, Alemany R, Piulats JM, Sanz-Pamplona R
Oncoimmunology 2023;12(1):2261278. Epub 2023 Oct 24 doi: 10.1080/2162402X.2023.2261278. PMID: 38126027 Free PMC Article

Variability of Bad Prognosis in Uveal Melanoma.

Shao YF, Echegaray JJ, Singh N, Singh AD
Ophthalmol Retina 2019 Feb;3(2):186-193. Epub 2018 Sep 21 doi: 10.1016/j.oret.2018.09.007. PMID: 31014770

Uveal melanoma: relatively rare but deadly cancer.

Kaliki S, Shields CL
Eye (Lond) 2017 Feb;31(2):241-257. Epub 2016 Dec 2 doi: 10.1038/eye.2016.275. PMID: 27911450 Free PMC Article

Uveal melanoma: From diagnosis to treatment and the science in between.

See all (35)