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The Capital Region of Denmark - a part of Copenhagen University Hospital
E-pub ahead of print

Next generation sequencing of endoscopic ultrasound guided microbiopsies from pancreatic cystic neoplasms

Research output: Contribution to journalJournal articleResearchpeer-review

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AIMS: Interpretation of cytology samples from pancreatic cysts is challenging. A novel microbiopsy forceps used during endoscopic ultrasound examinations offers new opportunities for histological examination of tissue from pancreatic cysts as well as next generation sequencing. The aim of this study was to analyze the results of next generation sequencing of microbiopsies from pancreatic cysts.

METHODS: Microbiopsies from 27 patients were obtained, of whom 23 were subjected to next generation sequencing.

RESULTS: Sixteen intraductal papillary mucinous neoplasms harbored mutations in genes regulating cell cycle and repair, and three were without mutations. Most frequent mutations were found in the KRAS and GNAS genes, and these were often concomitant. Three serous cystic neoplasms were without mutations, while a non-diagnostic microbiopsy, with regard to histology, harbored a KRAS and a TP53 mutation and was deemed malignant after clinical follow up. Three patients underwent surgery, and the point mutations detected in the microbiopsies were confirmed in the resected specimens. We identified one resected sample with an additional GNAS mutation which was not identified in the microbiopsy.

CONCLUSIONS: Thus, next generation sequencing of microbiopsies may have the potential to improve diagnostic decision making. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalHistopathology
ISSN0309-0167
DOIs
Publication statusE-pub ahead of print - 6 Jul 2019

ID: 57521006