Next-generation sequencing of pancreatic cyst wall specimens obtained using Moray micro-forceps for improving diagnostic accuracy

Astbury, Stuart; Baskar, Aishwarya; Grove, Jane I; Kaye, Philip; Aravinthan, Aloysious D; James, Martin W; Clarke, Christopher; Aithal, Guruprasad P; Venkatachalapathy, Suresh Vasan

Abstract

Background and study aims Pancreatic cysts are common incidental findings, with an estimated prevalence of 13-15% in imaging done for other reasons. It is difficult to identify cysts with malignant potential. Diagnosis often relies on collection of cyst fluid, but tissue sampling using micro-forceps may allow for a more reliable diagnosis and higher yield of DNA for next-generation sequencing (NGS).

Patients and methods 24 patients referred for endoscopic ultrasound were recruited. Biopsies were taken using micro-forceps and the AmpliSeq Cancer Hotspot panel was used for NGS, a PCR assay targeting several hotspots within 50 genes, including GNAS, KRAS and VHL.

Results The concentration of DNA extracted from 24 cyst wall samples was significantly higher than in the 9/24 available matched cyst fluid samples. Cyst wall biopsy was able to diagnose 19/24 cysts (5 high risk, 6 intraductal papillary mucinous neoplasm and 4 benign). The sensitivity, specificity and diagnostic accuracy for standard of care was 66.6%, 50% and 63.1% respectively and for standard of care with NGS was 100%, 50% and 89.4% respectively.

Conclusions Cyst wall biopsy performs well in diagnosing cysts but was inadequate in 5/24 patients. NGS data correlates well with histology and may aid in diagnosis and risk stratification of pancreatic cysts.

Citation

Astbury, S., Baskar, A., Grove, J. I., Kaye, P., Aravinthan, A. D., James, M. W., …Venkatachalapathy, S. V. Next-generation sequencing of pancreatic cyst wall specimens obtained using Moray micro-forceps for improving diagnostic accuracy

• Working Paper Type: Working Paper
• Deposit Date: Sep 12, 2023
• Publicly Available Date: Sep 14, 2023
• Public URL: https://nottingham-repository.worktribe.com/output/17947157
• Publisher URL: https://www.medrxiv.org/content/10.1101/2023.02.23.23286230v1
• Additional Information: This article is a preprint and has not been peer-reviewed.