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.