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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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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,...
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Reconstruct Human Retinoblastoma In Vitro
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Retinoblastoma: present scenario and future challenges.

Vishnu Vardhan Byroju1, Aisha Shigna Nadukkandy2, Marco Cordani3

  • 1Department of Biochemistry, American International Medical University, Gros Islet, St. Lucia, USA.

Cell Communication and Signaling : CCS
|September 4, 2023
PubMed
Summary

Retinoblastoma, a rare childhood eye cancer, is highly curable with early diagnosis. Advances in diagnostics and treatments, including genetic insights, improve survival rates for this intraocular tumor.

Keywords:
Cell plasticityChemotherapyKnudson hypothesisMolecular targeted therapiesRetinoblastomaSignalling pathways

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Area of Science:

  • Pediatric Oncology
  • Ophthalmology
  • Genetics

Background:

  • Retinoblastoma is a rare intraocular tumor affecting young children, with a 95% survival rate in developed nations due to advanced diagnostics and treatments.
  • Early detection and understanding the genetic basis, particularly the two-hit hypothesis involving the retinoblastoma susceptibility (RB) gene, are crucial for improving outcomes.

Discussion:

  • This review covers retinoblastoma's genetic and molecular features, focusing on mutations affecting cell proliferation, DNA repair, and cellular plasticity.
  • It also details the disease's classification, epidemiology, and discusses traditional and innovative therapeutic strategies.

Key Insights:

  • The Knudson hypothesis explains retinoblastoma development through two hits on the RB gene.
  • Molecular studies have identified biomarkers and targeted therapies, enhancing early diagnosis, genetic counseling, and prevention.

Outlook:

  • Continued research into retinoblastoma's molecular mechanisms and genetic underpinnings is essential for developing more effective treatments.
  • Improving diagnostic and therapeutic techniques will further enhance survival rates and reduce long-term complications for affected children.