Abnormalities of retinoblastoma gene expression in hematological malignancies
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Updated: Nov 6, 2026

Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
Y M Zhu1, A P Haynes, F J Keith
1Department of Haematology, Nottingham City Hospital, U.K.
Abstract:
The human retinoblastoma gene product which is involved in cell cycle control and also acts as a transcriptional repressor of genes involved in growth control, is constitutively expressed as a phosphoprotein in normal hemopoietic cells. Abnormalities of the retinoblastoma gene expression leading to loss of protein expression either due to structural changes, mutations or transcriptional abnormalities have been found in a variety of hematological malignancies. There is evidence that loss of Rb protein expression is particularly associated with tumour progression and an adverse response to therapy which may be linked to the biological effect of Rb protein loss on the growth characteristics of tumour cells.
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