Current applications of molecular testing on body cavity fluids

D. Pinto, F. Schmitt

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


Introduction: Effusion cytology has a high sensitivity for the diagnosis of malignancy and provides abundant material for molecular testing. Effusion draining is a minimally invasive procedure with few complications. Materials and methods: We performed a review of publications regarding the use of molecular testing in serous effusions. Results: In diagnostics, BAP-1 IHC and CDKN2A FISH are powerful tools for the diagnosis of malignant mesothelioma. FISH, PCR, and EBER-ISH work well in lymphomas. RT-PCR may enhance the diagnosis of secondary epithelial malignancies. In theranostics, molecular testing on serous effusions is widely reported for the detection of alterations in genes related to lung carcinomas, such as EGFR, ALK, ROS1, and BRAF. PD-L1 expression testing by immunohistochemistry (IHC) also seems to be viable in this type of sample. HER2 FISH and IHC provide actionable results in the context of breast malignancies. Results in serous effusions seem to be equivalent to tissue biopsies for most applications and across different molecular techniques. The most interesting technology is next-generation sequencing (NGS), given its ability to sequence multiple genes on a single sample and the decreasing costs that have closely followed increasing throughputs. Cell-free DNA from effusion supernatants might be the most promising area for future research, showing superiority to serum and even to cell-block samples in limited studies. Conclusions: Molecular tests are viable in serous effusion specimens when sufficient material is available. Given the rising importance of molecular testing we expect this to be an active field of research in the near future. © 2020 Wiley Periodicals, Inc.
Original languageEnglish
Pages (from-to)840-851
JournalDiagnostic Cytopathology
Issue number9
Publication statusPublished - Sept 2020


  • cytology
  • effusion
  • molecular pathology
  • targeted therapy
  • theranostics


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