Investigation of somatic GNAQ, GNA11, BAP1 and SF3B1 mutations in ophthalmic melanocytomas Journal Article


Authors: Francis, J. H.; Wiesner, T.; Milman, T.; Won, H. H.; Lin, A.; Lee, V.; Albert, D. M.; Folberg, R.; Berger, M. F.; Char, D. H.; Marr, B.; Abramson, D. H.
Article Title: Investigation of somatic GNAQ, GNA11, BAP1 and SF3B1 mutations in ophthalmic melanocytomas
Abstract: 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. (C) 2016 S. Karger AG, Basel
Keywords: genetics; neoplasms; melanoma; tumors; hybridization; central-nervous-system; bap1; uveal melanoma; samples; gnaq/11; sf3b1; melanocytoma; ocular tumors
Journal Title: Ocular Oncology and Pathology
Volume: 2
Issue: 3
ISSN: 2296-4681
Publisher: Karger  
Date Published: 2016-04-01
Start Page: 171
End Page: 177
Language: English
ACCESSION: WOS:000381697600012
DOI: 10.1159/000442352
PROVIDER: wos
PMCID: PMC4881266
PUBMED: 27239460
Notes: Article -- Source: Wos
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MSK Authors
  1. Brian Marr
    112 Marr
  2. Jasmine Helen Francis
    221 Francis
  3. David H Abramson
    364 Abramson
  4. Thomas Wiesner
    38 Wiesner
  5. Michael Forman Berger
    701 Berger
  6. Helen Hyeong-Eun Won
    109 Won