Abstract
Original language | English |
---|---|
Pages (from-to) | 840-851 |
Journal | Diagnostic Cytopathology |
Volume | 48 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 2020 |
Keywords
- cytology
- effusion
- molecular pathology
- targeted therapy
- theranostics
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Current applications of molecular testing on body cavity fluids. / Pinto, D.; Schmitt, F.
In: Diagnostic Cytopathology, Vol. 48, No. 9, 09.2020, p. 840-851.Research output: Contribution to journal › Article
TY - JOUR
T1 - Current applications of molecular testing on body cavity fluids
AU - Pinto, D.
AU - Schmitt, F.
N1 - Export Date: 16 April 2020 CODEN: DICYE Correspondence Address: Schmitt, F.; IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do PortoPortugal; email: fschmitt@ipatimup.pt References: Krausz, T., McGregor S, M., The mesothelium (2019) Practical Pathology of Serous Membranes, pp. 1-9. , Marchevsky AM, Husain AN, Galateau-Sallé F, eds., Cambridge, Cambridge University Press; Thomsen, T.W., DeLaPena, J., Setnik, G.S., Videos in clinical medicine. 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PY - 2020/9
Y1 - 2020/9
N2 - 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.
AB - 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.
KW - cytology
KW - effusion
KW - molecular pathology
KW - targeted therapy
KW - theranostics
U2 - 10.1002/dc.24410
DO - 10.1002/dc.24410
M3 - Article
C2 - 32227635
VL - 48
SP - 840
EP - 851
JO - Diagnostic Cytopathology
JF - Diagnostic Cytopathology
SN - 8755-1039
IS - 9
ER -