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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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1 Heinrich-Heine University and University Hospital of Duesseldorf, Institute of Pathology, Duesseldorf, Germany (GRID:grid.14778.3d) (ISNI:0000 0000 8922 7789)
2 Department of Surgery, Duesseldorf, Germany (GRID:grid.14778.3d)
3 Evangelisches Krankenhaus, Department of Internal Medicine, Duesseldorf, Germany (GRID:grid.492163.b) (ISNI:0000 0000 8976 5894)
4 Heinrich-Heine University and University Hospital of Duesseldorf, Clinic for Gastroenterology, Hepatology and Infectious Diseases, Duesseldorf, Germany (GRID:grid.14778.3d) (ISNI:0000 0000 8922 7789)
5 Heinrich-Heine University and University Hospital of Duesseldorf, Department of Visceral, Thoracic and Pediatric Surgery, Duesseldorf, Germany (GRID:grid.14778.3d) (ISNI:0000 0000 8922 7789)