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Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma

Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

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References (18)

Publisher
American Medical Association
Copyright
Copyright 2020 American Medical Association. All Rights Reserved.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2020.0427
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

JAMA OphthalmologyAmerican Medical Association

Published: May 19, 2020

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