Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions

Abstract Pancreatic cystic lesions (PCL) are increasingly diagnosed. Endoscopic ultrasound fine-needle aspiration (EUS-FNA) cytology is often used for diagnostic confirmation but can be inconclusive. In this study, the role of molecular analyses in the pre-operative diagnostics of PCL is evaluated....

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Autores principales:	Lena Haeberle, Martin Schramm, Wolfgang Goering, Lisa Frohn, Caroline Driescher, Werner Hartwig, Hubert-Karl Preissinger-Heinzel, Torsten Beyna, Horst Neuhaus, Katharina Fuchs, Verena Keitel-Anselmino, Wolfram Trudo Knoefel, Irene Esposito
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a7dae98876394ee2a0dbeec23fd869a6
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spelling	oai:doaj.org-article:a7dae98876394ee2a0dbeec23fd869a62021-12-02T10:44:08ZMolecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions10.1038/s41598-021-81065-22045-2322https://doaj.org/article/a7dae98876394ee2a0dbeec23fd869a62021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-81065-2https://doaj.org/toc/2045-2322Abstract Pancreatic cystic lesions (PCL) are increasingly diagnosed. Endoscopic ultrasound fine-needle aspiration (EUS-FNA) cytology is often used for diagnostic confirmation but can be inconclusive. In this study, the role of molecular analyses in the pre-operative diagnostics of PCL is evaluated. Targeted Next Generation Sequencing (NGS) applied on cytology smears was retrospectively evaluated in a cohort of 37 resected PCL. Usefulness of NGS on fresh cyst fluids was tested in a prospective cohort of patients with newly diagnosed PCL (n = 71). In the retrospective cohort, cytology plus NGS displayed higher sensitivity (94.1% vs. 87.1%) and specificity (100% vs. 50%) than cytology alone for the detection of mucinous neoplasms. In the prospective cohort, sensitivity and specificity of conventional cytology alone were 54.2% and 100% for the detection of mucinous neoplasia and 50.0% and 100% for the detection of high-grade dysplasia, respectively. Adding NGS, all lesions which underwent histopathologic verification (12/71, 17%) could be classified without false positive or false negative results regarding the detection of mucinous neoplasm so far. NGS analysis of cfDNA in PCL fluids is feasible and can increase diagnostic accuracy in the detection of mucinous neoplasms compared to cytology alone. However, algorithms for the detection of high-risk lesions need further improvement.Lena HaeberleMartin SchrammWolfgang GoeringLisa FrohnCaroline DriescherWerner HartwigHubert-Karl Preissinger-HeinzelTorsten BeynaHorst NeuhausKatharina FuchsVerena Keitel-AnselminoWolfram Trudo KnoefelIrene EspositoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lena Haeberle Martin Schramm Wolfgang Goering Lisa Frohn Caroline Driescher Werner Hartwig Hubert-Karl Preissinger-Heinzel Torsten Beyna Horst Neuhaus Katharina Fuchs Verena Keitel-Anselmino Wolfram Trudo Knoefel Irene Esposito Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
description	Abstract Pancreatic cystic lesions (PCL) are increasingly diagnosed. Endoscopic ultrasound fine-needle aspiration (EUS-FNA) cytology is often used for diagnostic confirmation but can be inconclusive. In this study, the role of molecular analyses in the pre-operative diagnostics of PCL is evaluated. Targeted Next Generation Sequencing (NGS) applied on cytology smears was retrospectively evaluated in a cohort of 37 resected PCL. Usefulness of NGS on fresh cyst fluids was tested in a prospective cohort of patients with newly diagnosed PCL (n = 71). In the retrospective cohort, cytology plus NGS displayed higher sensitivity (94.1% vs. 87.1%) and specificity (100% vs. 50%) than cytology alone for the detection of mucinous neoplasms. In the prospective cohort, sensitivity and specificity of conventional cytology alone were 54.2% and 100% for the detection of mucinous neoplasia and 50.0% and 100% for the detection of high-grade dysplasia, respectively. Adding NGS, all lesions which underwent histopathologic verification (12/71, 17%) could be classified without false positive or false negative results regarding the detection of mucinous neoplasm so far. NGS analysis of cfDNA in PCL fluids is feasible and can increase diagnostic accuracy in the detection of mucinous neoplasms compared to cytology alone. However, algorithms for the detection of high-risk lesions need further improvement.
format	article
author	Lena Haeberle Martin Schramm Wolfgang Goering Lisa Frohn Caroline Driescher Werner Hartwig Hubert-Karl Preissinger-Heinzel Torsten Beyna Horst Neuhaus Katharina Fuchs Verena Keitel-Anselmino Wolfram Trudo Knoefel Irene Esposito
author_facet	Lena Haeberle Martin Schramm Wolfgang Goering Lisa Frohn Caroline Driescher Werner Hartwig Hubert-Karl Preissinger-Heinzel Torsten Beyna Horst Neuhaus Katharina Fuchs Verena Keitel-Anselmino Wolfram Trudo Knoefel Irene Esposito
author_sort	Lena Haeberle
title	Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
title_short	Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
title_full	Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
title_fullStr	Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
title_full_unstemmed	Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
title_sort	molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a7dae98876394ee2a0dbeec23fd869a6
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Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesions

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