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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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Global Retinoblastoma Presentation and Analysis by National Income Level.

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Children in low-income countries face delayed diagnosis and advanced retinoblastoma, a curable eye cancer. This global study highlights disparities in care and the urgent need for international intervention to improve outcomes for retinoblastoma patients worldwide.

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Area of Science:

  • Ophthalmology
  • Pediatric Oncology
  • Global Health

Background:

  • Retinoblastoma is the most common intraocular cancer in children.
  • Early diagnosis is crucial for saving a child's life and vision.
  • Anecdotal evidence suggests late diagnoses are common globally, but this has not been systematically assessed.

Purpose of the Study:

  • To determine the global stage of retinoblastoma at diagnosis.
  • To examine the relationship between clinical variables and national income levels.
  • To identify risk factors for advanced retinoblastoma at diagnosis.

Main Methods:

  • A cross-sectional analysis of treatment-naive retinoblastoma patients diagnosed in 2017.
  • Data collected from 278 treatment centers across 153 countries.
  • Key outcomes measured: age at presentation, familial history, tumor stage, and metastasis.

Main Results:

  • 4351 patients were included, with 84.7% from low- and middle-income countries (LMICs).
  • Patients in high-income countries (HICs) were diagnosed younger (median 14.1 months) with less advanced disease compared to those in LMICs (median 30.5 months).
  • Lower national income was significantly associated with older age at diagnosis, higher rates of locally advanced disease and distant metastasis, and a lower proportion of familial history.

Conclusions:

  • The global burden of retinoblastoma lies in LMICs, where children present with older age and more advanced disease.
  • Disparities in diagnosis and treatment necessitate urgent national and international interventions.
  • Further research is needed to understand factors contributing to advanced disease in LMICs beyond age at presentation.