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.

• Authors: Charlotte Vestrup Rift, Linea C Melchior, Bojan Kovacevic, Anders Toxvaerd, Pia Klausen, John G Karstensen, Evangelos Kalaitzakis, Jan Storkholm, Carsten Palnaes Hansen, Peter Vilmann, Jane Preuss Hasselby
• Journal: Histopathology (Histopathology) Vol. 75 Issue 5 Pg. 767-771 (Nov 2019) ISSN: 1365-2559 [Electronic] England
• PMID: 31278869 (Publication Type: Journal Article)
• Copyright: © 2019 John Wiley & Sons Ltd.

Chemical References

• Biomarkers, Tumor
• Chromogranins
• KRAS protein, human
• GNAS protein, human
• GTP-Binding Protein alpha Subunits, Gs
• Proto-Oncogene Proteins p21(ras)

Topics

• Adult
• Aged
• Aged, 80 and over
• Biomarkers, Tumor (genetics)
• Biopsy (methods)
• Chromogranins (genetics)
• DNA Mutational Analysis
• Endoscopic Ultrasound-Guided Fine Needle Aspiration
• Female
• GTP-Binding Protein alpha Subunits, Gs (genetics)
• Genes, p53
• High-Throughput Nucleotide Sequencing (methods)
• Humans
• Male
• Middle Aged
• Pancreatic Cyst (diagnosis, genetics, pathology)
• Pancreatic Neoplasms (diagnosis, genetics, pathology)
• Proto-Oncogene Proteins p21(ras) (genetics)