Genetics of ocular melanoma: Insights into genetics, inheritance and testing

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van Poppelen N. M., de Bruyn D. P., Bicer T., Verdijk R., Naus N., Mensink H., ...Daha Fazla

International Journal of Molecular Sciences, cilt.22, sa.1, ss.1-19, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 22 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.3390/ijms22010336
  • Dergi Adı: International Journal of Molecular Sciences
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1-19
  • Anahtar Kelimeler: ocular melanoma, genetics, uveal melanoma, iris melanoma, conjunctival melanoma, noninvasive testing
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Sağlık Bilimleri Üniversitesi Adresli: Hayır

Özet

Ocular melanoma consists of posterior uveal melanoma, iris melanoma and conjunctival melanoma. These malignancies derive from melanocytes in the uveal tract or conjunctiva. The genetic profiles of these different entities differ from each other. In uveal melanoma, GNAQ and GNA11 gene mutations are frequently found and prognosis is based on mutation status of BAP1, SF3B1 and EIF1AX genes. Iris melanoma, also originating from the uvea, has similarities to the genetic makeups of both posterior uveal melanoma (UM) and conjunctival melanoma since mutations in GNAQ and GNA11 are less common and genes involved in conjunctival melanoma such as BRAF have been described. The genetic spectrum of conjunctival melanoma, however, includes frequent mutations in the BRAF, NRAS and TERT promoter genes, which are found in cutaneous melanoma as well. The BRAF status of the tumor is not correlated to prognosis, whereas the TERT promoter gene mutations are. Clinical presentation, histopathological characteristics and copy number alterations are associated with survival in ocular melanoma. Tissue material is needed to classify ocular melanoma in the different subgroups, which creates a need for the use of noninvasive techniques to prognosticate patients who underwent eye preserving treatment.