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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Semi-Automated Interphase FISH (iFISH) Spot Scoring in CD138-Positive Cells: Validation Study for Genetic
Daniela Borri1,2, Chin Jia Lin2, Victor Camillo3
1Hospital Israelita Albert Einstein, Laboratório Clínico, São Paulo, São Paulo, Brazil.
Microscopy Research and Technique
|March 4, 2025
Summary
Semi-automated fluorescent in situ hybridization (FISH) scoring is effective for multiple myeloma diagnostics. This method is accurate and efficient, offering time-saving benefits for cytogenetics laboratories.
Area of Science:
- Cytogenetics
- Molecular Diagnostics
- Hematology
Background:
- Fluorescent in Situ Hybridization (FISH) is crucial for multiple myeloma diagnosis.
- Accurate and efficient FISH scoring is essential in routine cytogenetics.
- Validation of automated and semi-automated scoring methods is needed.
Purpose of the Study:
- To validate automated and semi-automated FISH scoring for multiple myeloma.
- To compare the accuracy and efficiency of manual, automated, and semi-automated scoring.
- To assess the feasibility of semi-automated FISH scoring in routine practice.
Main Methods:
- Study involved 180 slides from multiple myeloma patients using CD138-positive cells.
- Six commercial FISH probes were used to detect gene alterations.
- Scoring methods compared: manual, automated, and semi-automated (manual revision of automated).
- European Myeloma Network reference values were used for accuracy assessment.
Main Results:
- Automated FISH scoring was found to be ineffective and lacked validation.
- Semi-automated FISH scoring demonstrated high accuracy for all tested probes.
- Semi-automated scoring offered significant time-saving benefits, particularly for deletion/gain probes.
- Manual scoring time was compared to semi-automated scoring.
Conclusions:
- Semi-automated FISH scoring is an efficient and accurate method for multiple myeloma diagnosis.
- This approach is feasible for routine implementation in cytogenetics laboratories.
- Semi-automated FISH scoring can optimize laboratory workflow and potentially reduce diagnostic time.
