5 Key Takeaways
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1
Genetic testing in retinoblastoma now includes liquid biopsy and molecular profiling, enhancing diagnosis and prognosis.
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2
Aqueous humor liquid biopsy shows 98% sensitivity and 100% specificity for diagnosing retinoblastoma.
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3
Circulating tumor DNA (ctDNA) can be detected in up to 85% of untreated unilateral retinoblastoma patients.
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4
Chromosome 6p gain and MYCN amplification are linked to poorer outcomes in globe salvage and increased secondary enucleation risk.
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5
Emerging genetic testing approaches aim to improve germline mutation detection and provide prognostic information for retinoblastoma.
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