Liquid Biopsy Technique Opens Door to Precision Medicine for Retinoblasoma

NEW YORK (GenomeWeb) – Some cancers have become poster children for precision and personalized medicine, some have benefitted less so from advances in genomic testing, and others have been largely cutoff from the sea change of genomic medicine and molecular diagnostics.

Retinoblastoma has in some ways been both, having been one of the first cancers in which driving tumor suppressor gene mutations were discovered and are now tested for, but lacking genomic predictors of disease severity or response to drugs that can help personalize treatment.

But a new discovery published late last week, researchers from Children’s Hospital Los Angeles were able to extract and analyze cancer DNA from samples of aqueous humor, a pocket of liquid in the front of the eye.

The findings open up possibilities a new generation of clinical genetic studies and new avenues for prognostic subtyping, personalized treatment, and research into molecularly targeted drugs.

Reporting their findings in JAMA Ophthalmology, the team analyzed six aqueous humor samples from three retinoblastoma eyes — two samples from eyes that had been removed and four taken before patients were treated with an injection of chemotherapy.

Using low-depth whole genome sequencing, the investigators were able to identify chromosomal copy number

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