Uveal Melanoma (UM)

Overview

Uveal melanoma is a primary intraocular malignancy arising from melanocytes of the uveal tract (iris, ciliary body, choroid). It is the most common primary intraocular tumor in adults and is classified under the Melanoma main type in OncoTree. Unlike cutaneous melanoma, uveal melanoma has a low mutation burden and distinct oncogenic drivers (predominantly GNAQ/GNA11), with a propensity for hematogenous metastasis to the liver.

Cohorts in the corpus

  • Uveal melanoma was represented as a minor subtype (n=1) in the melanoma WES cohort at Yale (skcm_yale, n=147 total).

Recurrent alterations

  • BAP1 frameshift (homozygous) identified in 1 uveal melanoma case from the Yale WES cohort; BAP1 inactivation is a known driver of metastatic uveal melanoma PMID:22842228.
  • Uveal melanoma (UM) transcriptomic and genomic analysis defined two major classes distinguished by BAP1 and SF3B1/EIF1AX mutations correlating with metastatic risk PMID:26683228
  • EIF1AX mutations in advanced thyroid cancer cluster at N-terminal residues also seen in uveal melanoma, or at a thyroid-specific p.A113splice site; EIF1AX mutations show near-perfect co-occurrence with RAS (OR 58.3, P<0.001) PMID:26878173

Subtypes

  • Uveal melanoma is biologically distinct from cutaneous, acral, and mucosal melanoma subtypes; sun-shielded tumors exhibit characteristically low mutation burden and high copy-number gains compared to sun-exposed cutaneous melanomas.

Therapeutic landscape

  • No drug pages directly linked in current corpus for uveal melanoma specifically.

Sources

  • PMID:22842228 — Krauthammer et al. Nat Genet 2012 (Yale melanoma WES cohort)

  • PMID:26683228

  • PMID:26878173 — Landa et al.; EIF1AX N-terminal mutation hotspot shared between advanced thyroid cancer and uveal melanoma noted

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