title: Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas.
abstract: OBJECTIVE
  The aim of this study was to use massively parallel DNA sequencing to identify GNAQ/11, BAP1 and SF3B1 mutations in ophthalmic melanocytoma.
  
  
  METHODS
  Six ophthalmic melanocytoma specimens (1 iridociliary and 5 optic nerve) were profiled for genomic alterations in GNAQ/11, BAP1 and SF3B1 using a custom deep sequencing assay. This assay uses solution phase hybridization-based exon capture and deep-coverage massively parallel DNA sequencing to interrogate all protein-coding exons and select introns.
  
  
  RESULTS
  The only iridociliary melanocytoma showed a mutation in GNAQ but not in BAP1. Of the 2 optic-nerve melanocytomas that developed into melanoma, one had a GNAQ mutation and both a BAP1 mutation and monosomy 3. The remaining 3 optic-nerve melanocytomas did not reveal mutations in GNAQ/11 or BAP1. SF3B1 mutations were not detected in any specimen.
  
  
  CONCLUSIONS
  The presence of GNAQ mutation in some iridociliary and optic-nerve melanocytomas suggests a possible relationship between ophthalmic melanocytoma and other ophthalmic melanocytic neoplasms. BAP1 mutation may accompany the transformation of ophthalmic melanocytoma to melanoma.
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Jasmine H
authors.initials: JH
authors.lastname: Francis
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Thomas
authors.initials: T
authors.lastname: Wiesner
authors.affiliation: New York Eye and Ear Infirmary, New York, N.Y., USA.
authors.forename: Tatyana
authors.initials: T
authors.lastname: Milman
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Helen H
authors.initials: HH
authors.lastname: Won
authors.affiliation: University of Illinois Hospital and Health Sciences System, Chicago, Ill., USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Lin
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pa., USA.
authors.forename: Vivian
authors.initials: V
authors.lastname: Lee
authors.affiliation: McPherson Eye Research Institute, University of Wisconsin-Madison, Madison, Wis., USA.
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Albert
authors.affiliation: Oakland University William Beaumont School of Medicine, Rochester, Mich., USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Folberg
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Berger
authors.affiliation: California Pacific Medical Center, San Francisco, Calif., USA.
authors.forename: Devron H
authors.initials: DH
authors.lastname: Char
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Brian
authors.initials: B
authors.lastname: Marr
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Abramson
keywords: BAP1; GNAQ/11; Genetics; Melanocytoma; Melanoma; Ocular tumors; SF3B1