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. 2016 Jan 27;2(3):171–177. doi: 10.1159/000442352

Table 1.

Mutational analysis results of 6 ophthalmic melanocytoma specimens

Specimen Source Fixation status GNAQ/GNA11 mutation SF3B1 BAP1 Notes
1 Iridociliary FFPE GNAQ: missense mutation: exon 5 Q209L Needle biopsy

2 ON FFPE Enucleated due to coincidental closed-angle glaucoma

3 ON FFPE Enucleated due to being blind and painful

4 ON FFPE Frameshift insertion: D663fs Transformed to melanoma

5 ON FFPE Enucleated due to patient preference

6 ON Frozen GNAQ: missense mutation: exon 5 p.Q209L Nonsense mutation: R385* Transformed to melanoma

ON = Optic nerve.