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Key PointsQuestionDo both ocular tumors of patients with bilateral retinoblastoma show similar genomic and gene expression features? FindingsIn this case report, 2 patients with bilateral retinoblastoma showed eye tumors with distinctive genomic profiles; chromosomal alteration profile supported the origin of the orbital recurrence from the homolateral eye in 1 patient, and in this case, 11q loss may be associated with extraocular relapse. Transcription factor pathways were differentially expressed between the left-eye and right-eye tumors in the second patient. MeaningThese 2 cases suggest genomic and gene expression differences between tumors in patients with bilateral disease and confirm intereye tumor heterogeneity that might be considered with targeted therapies.
JAMA Ophthalmology – American Medical Association
Published: May 19, 2020
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