RNA sequencing distinguishes benign from malignant pancreatic lesions sampled by EUS-guided FNA

Gastrointest Endosc. 2016 Aug;84(2):252-8. doi: 10.1016/j.gie.2016.01.042. Epub 2016 Jan 22.

Abstract

Background and aims: EUS-guided FNA (EUS-FNA) is the primary method used to obtain pancreatic tissue for preoperative diagnosis. Accumulating evidence suggests diagnostic and prognostic information may be obtained by gene-expression profiling of these biopsy specimens. RNA sequencing (RNAseq) is a newer method of gene-expression profiling, but published data are scant on the use of this method on pancreas tissue obtained via EUS-FNA. The aim of this study was to determine whether RNAseq of EUS-FNA biopsy samples of undiagnosed pancreatic masses can reliably discriminate between benign and malignant tissue.

Methods: In this prospective study, consenting adults presented to 2 tertiary care hospitals for EUS of suspected pancreatic mass. Tissue was submitted for RNAseq. The results were compared with cytologic diagnosis, surgical pathology diagnosis, or benign clinical follow-up of at least 1 year.

Results: Forty-eight patients with solid pancreatic mass lesions were enrolled. Nine samples were excluded because of inadequate RNA and 3 because of final pathologic diagnosis of neuroendocrine tumor. Data from the first 13 patients were used to construct a linear classifier, and this was tested on the final 23 patients (15 malignant and 8 benign lesions). RNAseq of EUS-FNA biopsy samples distinguishes ductal adenocarcinoma from benign pancreatic solid masses with a sensitivity of .87 (range, .58-.98) and specificity of .75 (range, .35-.96).

Conclusions: This proof-of-principle study suggests RNAseq of EUS-FNA samples can reliably detect adenocarcinoma and may provide a new method to evaluate more diagnostically challenging pancreatic lesions.

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Aged
  • Aged, 80 and over
  • Endoscopic Ultrasound-Guided Fine Needle Aspiration
  • Female
  • Gene Expression Profiling / methods*
  • Humans
  • Male
  • Middle Aged
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology
  • Pancreatitis / diagnosis
  • Pancreatitis / genetics*
  • Pancreatitis / pathology
  • Prospective Studies
  • Sequence Analysis, RNA