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Melanoma, uveal, susceptibility to, 1(UVM1)

MedGen UID:
376198
•Concept ID:
C1847724
•
Finding
Synonym: UVM1
 
Gene (location): 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

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: 37607989Free 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: 33396957Free 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: 26991400Free PMC Article

Curated

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

Suggested Reading

PubMed

Uveal melanoma.
Papastefanou VP, Cohen VM
J Skin Cancer 2011;2011:573974. Epub 2011 Jun 30 doi: 10.1155/2011/573974. PMID: 21773036Free PMC Article

Recent clinical studies

Etiology

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: 37607989Free PMC Article
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: 32877777Free 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: 27911450Free 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: 26991400Free PMC Article
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

Diagnosis

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: 37607989Free PMC Article
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
Derrien AC, Rodrigues M, Eeckhoutte A, Dayot S, Houy A, Mobuchon L, Gardrat S, Lequin D, Ballet S, Pierron G, Alsafadi S, Mariani O, El-Marjou A, Matet A, Colas C, Cassoux N, Stern MH
J Natl Cancer Inst 2021 Jan 4;113(1):80-87. doi: 10.1093/jnci/djaa047. PMID: 32239153Free 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: 27911450Free 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: 26991400Free PMC Article
Tumours associated with BAP1 mutations.
Murali R, Wiesner T, Scolyer RA
Pathology 2013 Feb;45(2):116-26. doi: 10.1097/PAT.0b013e32835d0efb. PMID: 23277170

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: 33798262Free 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: 33316260Free 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: 27911450Free 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

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: 38627362Free 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: 27911450Free 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: 26991400Free PMC Article
Genetic determinants of uveal melanoma.
Couturier J, Saule S
Dev Ophthalmol 2012;49:150-165. Epub 2011 Oct 21 doi: 10.1159/000328270. PMID: 22042019

Clinical prediction guides

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: 38627362Free PMC Article
Intrinsic disorder may drive the interaction of PROS1 and MERTK in uveal melanoma.
Djulbegovic M, Taylor Gonzalez DJ, Antonietti M, Uversky VN, Shields CL, Karp CL
Int J Biol Macromol 2023 Oct 1;250:126027. Epub 2023 Jul 26 doi: 10.1016/j.ijbiomac.2023.126027. PMID: 37506796Free 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: 27911450Free PMC Article
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

Recent systematic reviews

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

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

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
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    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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