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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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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Related Experiment Video

Updated: Jun 19, 2026

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

Genetic testing in orbital tumors.

Jwu Jin Khong1, Sarah Moore, Venkatesh C Prabhakaran

  • 1South Australian Institute of Ophthalmology, Department of Ophthalmology and Visual Science, Royal Adelaide Hospital, University of Adelaide, Australia. jjkhong@yahoo.com

Orbit (Amsterdam, Netherlands)
|October 21, 2009
PubMed
Summary

Cytogenetic and molecular testing aid in diagnosing orbital tumors by identifying specific genetic mutations. These methods refine classification, especially for poorly differentiated tumors, improving patient care.

Related Experiment Videos

Last Updated: Jun 19, 2026

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

Area of Science:

  • Ophthalmology
  • Oncology
  • Genetics

Background:

  • Orbital tumors encompass a diverse range of neoplastic conditions affecting the eye socket.
  • Accurate diagnosis and prognosis are crucial for effective management and patient outcomes.
  • Traditional diagnostic methods may face challenges with poorly differentiated or morphologically ambiguous tumors.

Purpose of the Study:

  • To review the clinical utility of cytogenetic and molecular testing in orbital tumor diagnosis and prognosis.
  • To elucidate the principles, benefits, and drawbacks of these advanced diagnostic techniques.
  • To highlight specific genetic alterations relevant to orbital neoplasms.

Main Methods:

  • Karyotyping
  • Fluorescence in situ hybridization (FISH)
  • Reverse transcriptase polymerase chain reaction (RT-PCR)
  • Genomic polymerase chain reaction (PCR)

Main Results:

  • Specific chromosomal aberrations are frequently identified in orbital lymphoproliferative neoplasms, soft tissue tumors, and some benign orbital tumors.
  • Detection of characteristic chromosomal translocations aids in refining diagnoses, particularly for tumors with overlapping features.
  • The review focuses on widely accessible genetic testing methodologies for routine diagnostics.

Conclusions:

  • Cytogenetic and molecular testing are invaluable tools for precise orbital tumor diagnosis and classification.
  • Identifying specific genetic mutations can significantly improve prognostic accuracy.
  • A combination of molecular techniques may be necessary for comprehensive genomic and transcriptional analysis.