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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 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.",
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 = "This article is protected by copyright. All rights reserved.",
year = "2019",
month = "7",
day = "6",
doi = "10.1111/his.13949",
language = "English",
journal = "Histopathology",
issn = "0309-0167",
publisher = "Wiley-Blackwell Publishing Ltd",

}

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 - This article is protected by copyright. All rights reserved.

PY - 2019/7/6

Y1 - 2019/7/6

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 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.

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 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.

U2 - 10.1111/his.13949

DO - 10.1111/his.13949

M3 - Journal article

JO - Histopathology

JF - Histopathology

SN - 0309-0167

ER -

ID: 57521006