A new way to detect retinoblastoma

An aqueous humour biopsy offers an opportunity to diagnose patients at a molecular level

green brown eye

US researchers have developed a new way of diagnosing retinoblastoma.

Describing the technique in Ophthalmology, scientists highlighted the potential of using aqueous humour samples as a liquid biopsy for retinoblastoma.

Whole genome sequencing was performed on 20 matched blood and aqueous humour samples from patients with retinoblastoma.

Chromosome changes associated with the growth of tumours were detected in none of the blood samples but found in 11 out of the 20 aqueous humour samples.

Dr Jesse Berry, from the Children’s Hospital Los Angeles, emphasised that aqueous humour biopsy has the potential to become “the new standard of care” for retinoblastoma.

“It is our best chance to diagnose and treat these patients on a molecular level,” she said.

A direct biopsy cannot be taken for retinoblastoma because the cancerous cells can spread easily.

“Direct biopsy can cause relapse or spread of the disease outside of the eye,” Dr Berry explained.

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