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Molecular diagnostics: techniques and recommendations for 1p/19q assessment
Adelheid Woehrer1, Johannes A Hainfellner1
1Institute of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.
CNS Oncology
|November 7, 2015
Summary
Assessing chromosome 1p 19q deletion status involves various molecular techniques. Fluorescence in situ hybridization and PCR-based methods are common, with newer techniques offering advantages but requiring further validation.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Accurate assessment of chromosome 1p 19q deletion status is crucial for cancer diagnosis and treatment.
- Multiple molecular techniques exist, each with specific requirements and limitations.
Purpose of the Study:
- To review and outline available methods for chromosome 1p 19q deletion assessment.
- To discuss the advantages and drawbacks of each diagnostic technique.
Main Methods:
- Review of fluorescence in situ hybridization (FISH) and PCR-based microsatellite analysis.
- Discussion of advanced techniques: array comparative genomic hybridization (aCGH), multiplex ligation-dependent probe amplification (MLPA), and real-time PCR.
- Evaluation of chromogenic in situ hybridization (CISH) as an alternative to FISH.
Main Results:
- Common methods like FISH and PCR-based analysis have established roles.
- Advanced techniques (aCGH, MLPA, real-time PCR) offer independence from autologous DNA but require high technical expertise.
- CISH presents a promising alternative to traditional FISH.
Conclusions:
- Method selection depends on tissue quality, desired accuracy, and available resources.
- Ongoing evaluation of advanced techniques is necessary for their diagnostic implementation.
- CISH is emerging as a viable and attractive option for 1p 19q deletion assessment.
