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 Pike,Rahul Iyengar,Chen-Ching Peng,Patricia Chevez-Barrios,Brianne Brown,Rachana Shah,Jaclyn Biegel,Venkata Yellapantula,Aaron Nagiel,Bibiana Jin Reiser,Liya Xu,Jesse L Berry

Ophthalmic genetics（2022）

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摘要

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.

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关键词

Malignant teratoid medulloepithelioma,aqueous humor liquid biopsy,intraocular ciliary body medulloepithelioma,somatic copy number alteration profile

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