Overview

NCI Definition: A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. [1]

Uveal melanomas most frequently harbor alterations in GNAQ, GNA11, BAP1, SF3B1, and RECQL4 [2].

Most Commonly Altered Genes in Uveal Melanoma

GNAQ Mutation, GNA11 Mutation, GNA11 Q209L, BAP1 Mutation, and SF3B1 Mutation are the most common alterations in uveal melanoma [2].

Top Alterations in Uveal Melanoma

Significant Genes in Uveal Melanoma

ARID1A +

ATM +

ATR +

ATRX +

BAP1 +

BARD1 +

BLM +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CDK2 +

CDK4 +

CHEK1 +

CHEK2 +

CYSLTR2 +

ERCC1 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FAM175A +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FEN1 +

GNA11 +

GNAQ +

HDAC1 +

HDAC2 +

IDH1 +

IDH2 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

NBN +

NPM1 +

NRAS +

PALB2 +

PARP1 +

PARP2 +

PLCB4 +

PMS1 +

PMS2 +

POLD1 +

POLE +

PPP2R1A +

PPP2R2A +

PRKCA +

PRKCB +

PRKCD +

PRKCE +

PRKCG +

PRKCI +

PRKCQ +

PRKCZ +

PRKDC +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD52 +

RAD54L +

RPA1 +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

WRN +

XRCC1 +

Disease Details

Synonyms
Melanoma of Uvea, Melanoma of the Uvea, Intraocular Melanoma, MELANOMA, UVEAL, MALIGNANT
Parent(s)
Ocular Melanoma
Children
Small Size Posterior Uveal Melanoma, Intermediate Cell Type Uveal Melanoma, Spindle Cell Uveal Melanoma, Ciliary Body Melanoma, Epithelioid Cell Uveal Melanoma, Mixed Cell Uveal Melanoma, Iris Melanoma, Necrotic Uveal Melanoma, Uveal Epithelioid Cell Melanoma, and Choroid Melanoma
OncoTree Name
Uveal Melanoma
OncoTree Code
UM

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.