Current applications of molecular testing on body cavity fluids

Area of Science:

• Oncology
• Molecular Diagnostics
• Cytopathology

Background:

• Effusion cytology offers high sensitivity for malignancy diagnosis and ample material for molecular testing.
• Effusion drainage is a minimally invasive procedure with a low complication rate.

Purpose of the Study:

• To review publications on the application of molecular testing in serous effusions.
• To assess the diagnostic and theranostic utility of molecular tests in effusion samples.

Main Methods:

• Literature review of studies utilizing molecular testing in serous effusions.
• Analysis of diagnostic and theranostic applications across various malignancies.

Main Results:

• Molecular tests like BAP-1 IHC, CDKN2A FISH, FISH, PCR, EBER-ISH, and RT-PCR are effective for diagnosing mesothelioma, lymphomas, and epithelial malignancies.
• Theranostic applications include detecting gene alterations (EGFR, ALK, ROS1, BRAF) in lung carcinomas and assessing PD-L1 and HER2 expression for breast malignancies.
• Results from serous effusions are comparable to tissue biopsies, with next-generation sequencing (NGS) offering multi-gene analysis and cell-free DNA showing future potential.

Conclusions:

• Molecular testing is feasible in serous effusion specimens when adequate material is present.
• The utility of molecular tests in effusions is significant for both diagnosis and treatment guidance.
• Serous effusions represent a valuable, minimally invasive source for advanced molecular diagnostics and theranostics.