Diagnostic Accuracy Performance of Fluorescence In Situ Hybridization (FISH) for Biliary Strictures: A Systematic...

Area of Science:

• Oncology
• Genetics
• Medical Diagnostics

Background:

• Pancreaticobiliary malignancy diagnosis often relies on invasive procedures.
• Fluorescence in situ hybridization (FISH) is a molecular diagnostic tool with potential for non-invasive cancer detection.
• Varied definitions of a positive FISH result exist in literature, impacting its diagnostic performance.

Purpose of the Study:

• To systematically review and meta-analyze the diagnostic performance of UroVysion® FISH for pancreaticobiliary malignancy.
• To compare different definitions of a positive FISH result.
• To determine the optimal FISH definition for improved diagnostic accuracy.

Main Methods:

• Systematic literature search of studies evaluating FISH for biliary stricture malignancy (inception to Sept 2024).
• Inclusion of all reported thresholds for a positive FISH test.
• Subgroup analysis based on positive FISH criteria: (1) polysomy only, (2) polysomy/tetrasomy/trisomy, (3) polysomy/9p deletion.

Main Results:

• Eighteen studies (2516 FISH specimens) were analyzed; 45.0% had malignancy.
• Overall FISH sensitivity: 57.6%, specificity: 87.8%.
• Polysomy only: sensitivity 49.4%, specificity 96.2%. Polysomy + tetrasomy/trisomy: sensitivity 64.3%, specificity 78.9%. Polysomy + 9p deletion: sensitivity 54.7%, specificity 95.1%.

Conclusions:

• Defining a positive FISH test by polysomy only or polysomy/9p deletion improves diagnostic sensitivity.
• These definitions maintain high specificity for detecting pancreaticobiliary malignancy.
• Recommended criteria for positive FISH testing to enhance diagnostic performance.