Pancreatic cyst fluid harboring a mutation.

Cold Spring Harb Mol Case Stud

Department of Pathology and Laboratory Medicine and Department of Medicine, Dartmouth-Hitchcock Medical Center and Geisel School of Medicine, Lebanon, New Hampshire 03766, USA.

Published: April 2019

A 55-yr-old woman presented with abdominal bloating for approximately 1 year. Imaging studies showed a cyst in the body of the pancreas with proximal pancreatic ductal dilation. An endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed. Cytologic findings from the cyst fluid were consistent with a mucinous neoplastic cyst, and the possibility of malignancy could not be entirely excluded. A mutation analysis was performed on the cyst fluid using the Idylla system and circulating tumor KRAS (ctKRAS) cartridge (Biocartis, Mechelen, Belgium), which tests for actionable mutations in exons 2, 3, and 4 of the gene. Idylla testing detected a G12D mutation in the cyst fluid. The patient subsequently underwent a distal subtotal pancreatectomy with splenectomy. Microscopic examination of the resected tissue revealed an intraductal papillary mucinous neoplasm (IPMN) with an associated invasive carcinoma. testing on the resected tumor tissue confirmed the G12D mutation detected in the cyst fluid earlier. The described rapid testing of directly from the pancreatic cyst fluid can complement cytology assessment to classify pancreatic cysts more reliably and can potentially be of significant help when other cyst findings are nondiagnostic.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549572PMC
http://dx.doi.org/10.1101/mcs.a003830DOI Listing

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