Related Experiment Video
Updated: Jun 28, 2025
Isolation of Proximal Fluids to Investigate the Tumor Microenvironment of Pancreatic Adenocarcinoma
Published on: November 5, 2020
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis
Solène Dermine1, Emmanuelle Masson2, Emmanuelle Girodon-Boulandet3
1Department of Pancreatology, Beaujon Hospital, DMU Digest, AP-HP, Clichy, France; Université Paris-Cité, Paris, France.
Abstract:
Genetic testing is performed for unexplained pancreatitis. The aim of this study was to evaluate the diagnostic value of repeating genetic testing in idiopathic pancreatitis when new predisposing genes are identified. We investigated 330 patients who were initially screened for PRSS1, SPINK1 and CFTR genes. A new analysis was performed by Next-Generation Sequencing (NGS) for PRSS1, SPINK1, CFTR, CTRC, CASR, CPA1, TRPV6 genes and the CEL-HYB1 allele in clinical practice, and patients were included in our cohort study. Additional rare variants were identified in 7.3 % of the patients. Screening for new pancreatitis genes is recommended when initial screening is limited. Routine use of NGS is a useful diagnostic tool in these cases.
Related Concept Videos
01:29Chronic Pancreatitis II: Collaborative Care
Assessment:
01:24Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
01:30Acute Pancreatitis II: Clinical Manifestations and Management