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INTERNATIONAL CONGRESS OF

CancerGenetics

• Decoding Retinoblastoma: Genetic and Epigenetic Foundations and Their Implications for Targeted Therapy

• afagh bapirzadeh,^1,* Ali Dolatian,² Amirreza Madandar,³ Mohammad Zahiri,⁴
  1. 1 Islamic Azad University, North Tehran branch,Heravy Sq., South makran St., P.O. BOX:1651153311
  2. Islamic Azad University, Shahre-Qods branch, Kalhor Blvd., Fatah highway, Shahr Qods, Tehran, Iran
  3. Islamic Azad University, Shahre-Qods branch, Kalhor Blvd., Fatah highway, Shahr Qods, Tehran, Iran
  4. Islamic Azad University, Shahre-Qods branch, Kalhor Blvd., Fatah highway, Shahr Qods, Tehran, Iran
  
  
  
• Introduction: Retinoblastoma is a rare and aggressive intraocular malignancy that significantly contributes to childhood cancer-related mortality and morbidity worldwide. The disease burden varies across regions, with lower-income countries experiencing significantly higher mortality rates due to delayed diagnosis and limited access to treatment.Mutations in the RB1 gene (chromosome 13q14.2) are the primary drivers of retinoblastoma, disrupting cell cycle regulation and leading to uncontrolled retinal cell proliferation. Under normal conditions, the pRB protein halts the cell cycle at the G1 phase by inhibiting transcription factors such as E2F. Dysfunction in RB1 eliminates this control, resulting in tumor formation. In rare cases, MYCN overexpression accelerates cell division by promoting pRB phosphorylation and inactivation via cyclin and CDK upregulation.
• Methods: Advanced imaging techniques such as MRI and CT scans enable early detection. Innovative treatments, including chemotherapy, have significantly improved eye preservation and vision outcomes
• Results: Epigenetic modifications also play a crucial role. Histone deacetylases (HDACs) remove acetyl groups from histones, leading to chromatin condensation and reduced accessibility to tumor suppressor genes like RB1. Additionally, DNA methylation and histone modifications, particularly in CpG islands, influence gene expression and contribute to tumorigenesis.
• Conclusion: This comprehensive review examines the genetic and epigenetic mechanisms underlying retinoblastoma, along with recent advancements in its diagnosis and treatment, based on the analysis of biological databases and relevant research articles published in the last decade.
• Keywords: Retinoblastoma Epigenetics Histone Deacetylases Targeted Therapy pRB