Retinoblastoma Genomics
Retinoblastoma Genomics - Related Videos
06:04
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
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Cited by 36 •
2021
The aqueous humor is a high-yield liquid biopsy for retinoblastoma, intraocular cancer that cannot be biopsied in vivo due to the risk of extraocular spread. Herein, a method for safely extracting aqueous humor via clear corneal paracentesis and steps for genomic analysis to identify prognostic biomarkers are presented.
07:55
Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
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Cited by 8 •
2011
A method is described to propagate human retinoblastoma tumors in mice. Tumor cells are directly injected into the eyes of immune deficient mice. Secondary tumors have been successfully established using both cells directly harvested from human tumors and cultured tumorspheres.
01:20
The Retinoblastoma Gene
0 Views •
2023
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells. The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20
The Retinoblastoma Gene
0 Views •
2023
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells. The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
08:31
Isolation and Genome Analysis of Single Virions using 'Single Virus Genomics'
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Cited by 2 •
2013
Single Virus Genomics (SVG) is a method to isolate and amplify the genomes of single virons. Viral suspensions of a mixed assemblage are sorted using flow cytometry onto a microscope slide with discrete wells containing agarose, thereby capturing the virion and reducing genome shearing during downstream processing. Whole genome amplification is achieved using multiple displacement amplification (MDA) resulting in genomic material that is suitable for sequencing.
FAQs
The critical molecular event is loss of functional RB1 activity from both gene copies. Because RB1 normally participates in cell-cycle control, its inactivation removes an important restraint on retinal cell proliferation. Genomic analysis then examines additional changes, such as chromosome-level gains and losses, to determine how the tumor’s molecular profile may relate to its behavior.
Chromosome-level gains and losses add information beyond RB1 status. These alterations can help distinguish retinoblastoma tumors with different genomic profiles and may influence tumor behavior. Their value is therefore comparative: profiling does not stop after identifying the initiating tumor-suppressor event, but considers the broader pattern of genomic change when classifying disease and studying progression.
Comparing tumor DNA with germline DNA addresses different biological questions. Tumor DNA reveals alterations present in cancer cells, whereas germline DNA can support assessment of inherited risk. This distinction is important in retinoblastoma genomics because a molecular finding may inform not only the tumor’s classification, but also evaluation of hereditary risk.
Genomic investigation can combine sequencing, copy-number analysis, and other molecular-profiling methods. Sequencing searches for gene-level changes, while copy-number analysis evaluates gains or losses of genomic material. Investigators may apply these approaches to tumor DNA, germline DNA, or both, depending on whether the aim is tumor characterization, hereditary-risk assessment, or a broader comparison.
Results can contribute to diagnosis and tumor classification by linking molecular findings with the disease being evaluated. A profile may show whether RB1 inactivation is present and whether additional chromosome-level changes are detected. Used together, these data provide a molecular layer for characterizing retinoblastoma more precisely and for distinguishing tumors according to their genomic features.
In cancer research, these profiles provide a framework for examining how retinoblastoma progresses and why tumors may differ in treatment response. They also support investigation of less toxic, biologically targeted approaches to care. The goal is not simply to catalog alterations, but to connect genomic patterns with progression, response, and potential therapeutic direction.