Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA.
Sarah PikeRahul IyengarChen-Ching PengPatricia Chevez-BarriosBrianne BrownRachana ShahJaclyn BiegelVenkata YellapantulaAaron NagielBibiana Jin ReiserLiya XuJesse L BerryPublished in: Ophthalmic genetics (2022)
We present a case of CBME and include the unique SCNA profile of AH cfDNA from the enucleated eye. This case suggests utility of AH liquid biopsy in distinguishing between differential diagnoses for intraocular mass lesions.