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Recently Identified Diagnostic Markers in Effusion Cytology
Ben Davidson1,2
1Department of Pathology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway, ben.davidson@medisin.uio.no.
Insights
Immunohistochemistry markers like BAP1 and MTAP aid in distinguishing mesothelioma from carcinoma in effusion specimens. These diagnostic tools are crucial for cancer staging and guiding targeted therapy decisions.
Area of Science:
- Cytopathology
- Oncology
- Immunohistochemistry
Background:
- Effusion specimens are common in cytopathology.
- Markers for effusion diagnosis need rigorous evaluation.
- This review focuses on immunohistochemistry markers for effusion diagnosis.
Purpose of the Study:
- To review currently used markers for effusion diagnosis.
- To highlight the role of immunohistochemistry in effusion analysis.
- To discuss markers differentiating mesothelioma from carcinoma and reactive proliferations.
Main Methods:
- Literature search of relevant publications.
- Focus on markers with established diagnostic roles.
- Review of immunohistochemistry and molecular analyses.
Main Results:
- BAP1 and MTAP expression are useful in differentiating mesothelial proliferations, mesothelioma, and metastatic carcinoma.
- Molecular markers (CDK2NA, MTAP, BAP1, NF2) aid in distinguishing mesothelioma from reactive mesothelium.
- Established markers (TAG-72, claudin-4, calretinin, HEG1) differentiate mesothelioma from carcinoma.
- Markers like PAX8, TTF1, and TRPS1 help identify the origin of metastatic adenocarcinoma.
Conclusions:
- Effusion diagnosis is vital for cancer staging and patient prognosis.
- Effusions are valuable for predictive studies and targeted therapy selection.
Background:
Effusion specimens are frequently encountered in cytopathology practice. As in surgical pathology, candidate markers for effusion diagnosis require thorough assessment prior to inclusion in diagnostic panels. This review discusses some of the currently used markers, with a focus on immunohistochemistry.
Summary:
A literature search of relevant publications, with a focus on markers with an established diagnostic role. BRCA1-associated protein 1 (BAP1) and methylthioadenosine phosphorylase (MTAP) protein expression by immunohistochemistry has been shown to be useful in the differentiation of reactive mesothelial proliferations from mesothelioma, as well as in differentiating the latter from metastatic carcinoma, in multiple studies. Molecular analysis of CDKN2A, MTAP, BAP1, and NF2 status has been additionally applied to the differential diagnosis of mesothelioma from reactive mesothelium. Robust markers for the differentiation between mesothelioma and carcinoma, such as TAG-72/B72.3, claudin-4, calretinin and HEG1, are available, as are markers that support a specific origin for metastatic adenocarcinoma, such as PAX8, TTF1 and TRPS1.
Key Messages:
Effusion diagnosis remains central to staging, and consequently, prognosis of cancer patients. Effusions additionally constitute optimal material for predictive studies and thereby guide the choice of targeted therapy.
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