medwireNews: Tumor-specific DNA can be retrieved from the aqueous humor (AH) of patients with retinoblastoma, say US researchers, allowing genetic analysis in patients who do not have a biopsy sample available.
Jesse Berry, from Children’s Hospital Los Angeles in California, and co-workers successfully corroborated chromosomal copy number variation profiles from four AH samples with matched tissue specimens that were taken from two eyes of two children who had undergone primary enucleation.
And a nonsense RB1 mutation detected in AH samples from a third child who initially received intravitreous injections of melphalan for vitreous seeding was subsequently confirmed in a tissue sample available after secondary enucleation following relapse.
“With further research, this novel method may allow clinicians to diagnose [retinoblastoma] in the setting of a diagnostic dilemma and, potentially, to determine whether certain chromosomal copy number variation profile parameters or RB1 mutations correlate with prognosis or therapeutic response,” the authors postulate in JAMA Ophthalmology.
“While additional investigation is required, this surrogate biopsy has the potential to revolutionize how we manage this childhood cancer.”
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