1. Next‐generation sequencing of endoscopic ultrasound guided microbiopsies from pancreatic cystic neoplasms
- Author
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Bojan Kovacevic, Evangelos Kalaitzakis, Anders Toxværd, Peter Vilmann, Linea Melchior, Charlotte Vestrup Rift, John Gásdal Karstensen, Carsten Palnæs Hansen, Pia Klausen, Jan H Storkholm, and Jane Preuss Hasselby
- Subjects
Adult ,Male ,0301 basic medicine ,Endoscopic ultrasound ,Pathology ,medicine.medical_specialty ,Histology ,Biopsy ,DNA Mutational Analysis ,medicine.disease_cause ,Pathology and Forensic Medicine ,Proto-Oncogene Proteins p21(ras) ,03 medical and health sciences ,0302 clinical medicine ,Biomarkers, Tumor ,Chromogranins ,GTP-Binding Protein alpha Subunits, Gs ,medicine ,GNAS complex locus ,Humans ,Endoscopic Ultrasound-Guided Fine Needle Aspiration ,Aged ,Aged, 80 and over ,Intraductal papillary mucinous neoplasm ,medicine.diagnostic_test ,biology ,business.industry ,Point mutation ,High-Throughput Nucleotide Sequencing ,General Medicine ,Middle Aged ,Genes, p53 ,medicine.disease ,Pancreatic Neoplasms ,Serous fluid ,030104 developmental biology ,030220 oncology & carcinogenesis ,biology.protein ,Female ,KRAS ,Pancreatic Cyst ,Pancreatic cysts ,business - 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.
- Published
- 2019
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