title: Bilateral Diffuse Uveal Melanocytic Proliferation: Molecular Genetic Analysis of a Case and Review of the Literature.
abstract: OBJECTIVE
  To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium.
  
  
  METHODS
  Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP.
  
  
  RESULTS
  Histological evaluation revealed proliferation of bland spindle cells, diffusely replacing the uveal tract, which showed a proliferation index of less than 1%. There was absence of mutations involving the codon 209 and 183 of GNAQ, and of GNA11. MLPA analysis showed disomy 3 with polysomy 8q for both eyes. The patient died 8 years later of an unrelated condition.
  
  
  CONCLUSIONS
  Although BDUMP is considered to be a benign proliferative disease, copy number alterations of unknown significance may occur in these lesions.
authors.affiliation: Dalmia Ophthalmic Pathology Services, L.V. Prasad Eye Institute, Bhubaneswar, India.
authors.forename: Ruchi
authors.initials: R
authors.lastname: Mittal
authors.affiliation: Save Sight Institute, University of Sydney, Sydney, N.S.W., Australia.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Cherepanoff
authors.affiliation: Pathology, Department of Clinical and Molecular Cancer Medicine, University of Liverpool, Liverpool, UK.
authors.forename: Sophie
authors.initials: S
authors.lastname: Thornton
authors.affiliation: Pathology, Department of Clinical and Molecular Cancer Medicine, University of Liverpool, Liverpool, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Kalirai
authors.affiliation: Ocular Oncology Service, University of California, San Francisco, Calif., USA.
authors.forename: Bertil
authors.initials: B
authors.lastname: Damato
authors.affiliation: Pathology, Department of Clinical and Molecular Cancer Medicine, University of Liverpool, Liverpool, UK.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Coupland
keywords: Bilateral diffuse uveal melanocytic hyperplasia; Endometrial carcinoma; GNAQ mutation; Multiplex ligation-dependent probe amplification; Paraneoplastic syndrome