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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Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2021-02-01
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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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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