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

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@article{5188e952cb5f40ffbb3ba1723665c586,
title = "Next generation sequencing of endoscopic ultrasound guided microbiopsies from pancreatic cystic neoplasms",
abstract = "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 analyse the results of next-generation sequencing of microbiopsies from pancreatic cysts. Methods and results: Microbiopsies from 27 patients were obtained, 23 of which were subjected to next-generation sequencing. Sixteen intraductal papillary mucinous neoplasms harboured 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 with regard to histology, a non-diagnostic microbiopsy harboured 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: Next-generation sequencing of microbiopsies may have the potential to improve diagnostic decision-making.",
keywords = "intraductal papillary mucinous neoplasm, microbiopsy, next-generation sequencing, pancreatic cystic neoplasm",
author = "{Vestrup Rift}, Charlotte and {Cecilie Melchior}, Linea and Bojan Kovacevic and Anders Toxvaerd and Pia Klausen and {G{\'a}sdal Karstensen}, John and Evangelos Kalaitzakis and Jan Storkholm and {Palnaes Hansen}, Carsten and Peter Vilmann and {Preuss Hasselby}, Jane",
note = "{\circledC} 2019 John Wiley & Sons Ltd.",
year = "2019",
doi = "10.1111/his.13949",
language = "English",
volume = "75",
pages = "767--771",
journal = "Histopathology",
issn = "0309-0167",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - Next generation sequencing of endoscopic ultrasound guided microbiopsies from pancreatic cystic neoplasms

AU - Vestrup Rift, Charlotte

AU - Cecilie Melchior, Linea

AU - Kovacevic, Bojan

AU - Toxvaerd, Anders

AU - Klausen, Pia

AU - Gásdal Karstensen, John

AU - Kalaitzakis, Evangelos

AU - Storkholm, Jan

AU - Palnaes Hansen, Carsten

AU - Vilmann, Peter

AU - Preuss Hasselby, Jane

N1 - © 2019 John Wiley & Sons Ltd.

PY - 2019

Y1 - 2019

N2 - 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 analyse the results of next-generation sequencing of microbiopsies from pancreatic cysts. Methods and results: Microbiopsies from 27 patients were obtained, 23 of which were subjected to next-generation sequencing. Sixteen intraductal papillary mucinous neoplasms harboured 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 with regard to histology, a non-diagnostic microbiopsy harboured 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: Next-generation sequencing of microbiopsies may have the potential to improve diagnostic decision-making.

AB - 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 analyse the results of next-generation sequencing of microbiopsies from pancreatic cysts. Methods and results: Microbiopsies from 27 patients were obtained, 23 of which were subjected to next-generation sequencing. Sixteen intraductal papillary mucinous neoplasms harboured 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 with regard to histology, a non-diagnostic microbiopsy harboured 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: Next-generation sequencing of microbiopsies may have the potential to improve diagnostic decision-making.

KW - intraductal papillary mucinous neoplasm

KW - microbiopsy

KW - next-generation sequencing

KW - pancreatic cystic neoplasm

U2 - 10.1111/his.13949

DO - 10.1111/his.13949

M3 - Journal article

VL - 75

SP - 767

EP - 771

JO - Histopathology

JF - Histopathology

SN - 0309-0167

IS - 5

ER -

ID: 57521006