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

PubMed ID: 27239460

Author(s): Francis JH, Wiesner T, Milman T, Won HH, Lin A, Lee V, Albert D</strong>M, Folberg R, Berger MF, Char DH, Marr B, Abramson DH. Investigation of somatic GNAQ, GNA11, BAP1 and SF3B1 mutations in ophthalmic melanocytomas. Ocul Oncol Pathol. 2016 Apr;2(3):171-7. doi: 10.1159/000442352. Epub 2016 Jan 27. PMID 27239460

Journal: Ocular Oncology And Pathology, Volume 2, Issue 3, Apr 2016

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.