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

Natasha M van Poppelen1,2, Daniël P de Bruyn1,2, Tolga Bicer1,3

  • 1Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.

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|January 5, 2021
PubMed
Summary

Ocular melanoma subtypes have distinct genetic profiles influencing prognosis. Understanding these genetic differences is crucial for accurate classification and developing noninvasive prognostic techniques for eye-preserving treatments.

Keywords:
conjunctival melanomageneticsiris melanomanoninvasive testingocular melanomauveal melanoma

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Area of Science:

  • Ophthalmology
  • Oncology
  • Genetics

Background:

  • Ocular melanoma encompasses posterior uveal melanoma, iris melanoma, and conjunctival melanoma, originating from melanocytes.
  • These subtypes exhibit distinct genetic profiles, impacting their clinical behavior and prognosis.

Purpose of the Study:

  • To delineate the genetic landscape of different ocular melanoma subtypes.
  • To explore the correlation between genetic mutations and patient survival.
  • To highlight the need for noninvasive prognostic methods in ocular melanoma management.

Main Methods:

  • Analysis of genetic profiles, including gene mutations (e.g., GNAQ, GNA11, BAP1, SF3B1, EIF1AX, BRAF, NRAS, TERT promoter) and copy number alterations.
  • Correlation of genetic findings with clinical presentation and histopathological characteristics.
  • Review of prognostic indicators in ocular melanoma.

Main Results:

  • Posterior uveal melanoma frequently harbors GNAQ/GNA11 mutations, with prognosis linked to BAP1, SF3B1, and EIF1AX status.
  • Iris melanoma shows genetic overlap with both posterior uveal and conjunctival melanoma.
  • Conjunctival melanoma commonly presents BRAF, NRAS, and TERT promoter mutations, with TERT promoter mutations correlating with prognosis.

Conclusions:

  • Distinct genetic signatures characterize ocular melanoma subtypes, influencing patient outcomes.
  • Genetic profiling is essential for accurate classification and prognostication.
  • Noninvasive techniques are needed to predict outcomes for patients undergoing eye-preserving treatments.