Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas

Jasmine H. Francis, Thomas Wiesner, Tatyana Milman, Helen H. Won, Amy Lin, Vivian Lee, Daniel M. Albert, Robert Folberg, Michael F. Berger, Devron H. Char, Brian Marr, David H. Abramson

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Purpose: The aim of this study was to use massively parallel DNA sequencing to identify GNAQ/11, BAP1 and SF3B1 mutations in ophthalmic melanocytoma. Procedures: 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.

Original languageEnglish (US)
Pages (from-to)171-177
Number of pages7
JournalOcular Oncology and Pathology
Issue number3
StatePublished - Apr 1 2016
Externally publishedYes


  • BAP1
  • GNAQ/11
  • Genetics
  • Melanocytoma
  • Melanoma
  • Ocular tumors
  • SF3B1

ASJC Scopus subject areas

  • General Nursing


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