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Genomic and transcriptomic tumor heterogeneity in bilateral retinoblastoma

JAMA Ophthalmology May 18, 2020

Winter U, Ganiewich D, Ottaviani D, et al. - In patients with bilateral retinoblastoma, researchers sought to compare the genomic features between each eye and a specimen from an orbital relapse. In this case report, two patients with retinoblastoma had upfront bilateral enucleation. In two patients with bilateral disease, differential genomic and gene expression characteristics were noted between tumors, suggesting intereye heterogeneity which could be considered if targeted therapies are used in these patients. Chromosomal alteration profile in one patient supported the origin of the homolateral eye orbital recurrence. In this patient, loss in chromosome 11q may have been related to extraocular relapse.

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