1
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Molecular and immunohistochemical analyses of uveal melanoma patient cohort.

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Uveal melanoma is a rare form of melanoma and the most frequent primary eye malignancy in adults. The major molecular alterations underlying uveal melanoma pathogenesis affect mainly the GNAQ, GNA11, SF3B1, and BAP1 genes. In this study, we somatically genotyped 31 Brazilian uveal melanomas for BRAF, GNA11, GNAQ, SF3B1, and BAP1 gene mutations and assessed BRCA2 and p53 protein expression. GNAQ and GNA11 mutations were detected in 60%, and SF3B1 mutation rate was 30%. p53 Immunostaining was markedly positive in 5/31, and 3/31 samples showed negative BRCA2 expression. This study supports the importance of these key genes in uveal melanoma tumorigenesis; p53 and BRCA pathways seem to play a role in a subset of patients, possibly heralding unfavorable prognosis.

          Related collections

          Author and article information

          Journal
          Melanoma Res
          Melanoma research
          Ovid Technologies (Wolters Kluwer Health)
          1473-5636
          0960-8931
          June 2019
          : 29
          : 3
          Affiliations
          [1 ] Departments of Surgery.
          [2 ] Pathology.
          [3 ] Oral Surgery and Pathology.
          [4 ] Nutrition.
          [5 ] Human Pathology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
          [6 ] The Susanne Levy Gertner Oncogenetics Unit, Tel-Hashomer and the Sackler School of Medicine, Chaim Sheba Medical Center, Tel-Aviv University, Tel-Aviv, Israel.
          Article
          10.1097/CMR.0000000000000523
          30480620
          029380e6-d7bc-4e7b-b28b-bd0db84dd6a3
          History

          Comments

          Comment on this article