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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Nature Portfolio
2021-02-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-021-81065-2 |
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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 |
collection | DOAJ |
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. |
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last_indexed | 2024-12-14T14:59:32Z |
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spelling | doaj.art-a7dae98876394ee2a0dbeec23fd869a62022-12-21T22:56:53ZengNature PortfolioScientific Reports2045-23222021-02-0111111310.1038/s41598-021-81065-2Molecular analysis of cyst fluids improves the diagnostic accuracy of pre-operative assessment of pancreatic cystic lesionsLena Haeberle0Martin Schramm1Wolfgang Goering2Lisa Frohn3Caroline Driescher4Werner Hartwig5Hubert-Karl Preissinger-Heinzel6Torsten Beyna7Horst Neuhaus8Katharina Fuchs9Verena Keitel-Anselmino10Wolfram Trudo Knoefel11Irene Esposito12Institute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfInstitute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfInstitute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfInstitute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfInstitute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfDepartment of SurgeryDepartment of SurgeryDepartment of Internal Medicine, Evangelisches KrankenhausDepartment of Internal Medicine, Evangelisches KrankenhausClinic for Gastroenterology, Hepatology and Infectious Diseases, Heinrich-Heine University and University Hospital of DuesseldorfClinic for Gastroenterology, Hepatology and Infectious Diseases, Heinrich-Heine University and University Hospital of DuesseldorfDepartment of Visceral, Thoracic and Pediatric Surgery, Heinrich-Heine University and University Hospital of DuesseldorfInstitute of Pathology, Heinrich-Heine University and University Hospital of DuesseldorfAbstract 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.https://doi.org/10.1038/s41598-021-81065-2 |
spellingShingle | 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 Scientific Reports |
title | 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_short | 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 |
url | https://doi.org/10.1038/s41598-021-81065-2 |
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