Genetic Testing in Retinoblastoma: New Applications

Liquid biopsy and molecular profiling are expanding the diagnostic and prognostic role of genetic testing in retinoblastoma.

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Genetic testing in retinoblastoma now includes liquid biopsy and molecular profiling, enhancing diagnosis and prognosis.
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Aqueous humor liquid biopsy shows 98% sensitivity and 100% specificity for diagnosing retinoblastoma.
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Circulating tumor DNA (ctDNA) can be detected in up to 85% of untreated unilateral retinoblastoma patients.
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Chromosome 6p gain and MYCN amplification are linked to poorer outcomes in globe salvage and increased secondary enucleation risk.
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Emerging genetic testing approaches aim to improve germline mutation detection and provide prognostic information for retinoblastoma.

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