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Review
. 2022 Jan 13;14(2):397.
doi: 10.3390/cancers14020397.

Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less

Ilias P Nikas  1 , Giannis Mountzios  2 , Guy I Sydney  1   3 , Kalliopi J Ioakim  1   4 , Jae-Kyung Won  5 , Panagiotis Papageorgis  6
Affiliations
Review

Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less

Ilias P Nikas et al. Cancers (Basel). .

Abstract

Pancreatic cancer and cholangiocarcinoma are lethal diseases mainly diagnosed at an inoperable stage. As pancreatobiliary surgical specimens are often unavailable for further molecular testing, this review aimed to highlight the diagnostic, prognostic, and therapeutic impact of next-generation sequencing (NGS) performed on distinct small biopsies, including endoscopic ultrasound fine-needle aspirations and biopsies of pancreatic solid and cystic lesions, biliary duct brushings, and also "liquid biopsies" such as the pancreatic juice, bile, and blood. NGS could clarify indeterminate pancreatic lesions or biliary strictures, for instance by identifying TP53 or SMAD4 mutations indicating high-grade dysplasia or cancer. It could also stratify pancreatic cystic lesions, by distinguishing mucinous from non-mucinous cysts and identifying high-risk cysts that should be excised in surgically fit patients, whereas the combination of cytology, elevated cystic CEA levels and NGS could improve the overall diagnostic accuracy. When NGS is performed on the pancreatic juice, it could stratify high-risk patients under surveillance. On the plasma, it could dynamically monitor the disease course and response to therapy. Notably, the circulating tumor DNA (ctDNA) levels have been associated with staging, grading, and survival. Lastly, NGS has shown potential in identifying potentially actionable molecular alterations. In conclusion, NGS applied on small biopsies could carry significant diagnostic, prognostic, and therapeutic value.

Keywords: biomarkers; biopsy; circulating tumor DNA (ctDNA); endoscopic-ultrasound-guided fine needle aspiration (EUS-FNA); liquid biopsy; molecular; molecular targeted therapy; needle; pancreatic cyst; pancreatic juice; pancreatic neoplasms; pathology; tumor.

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Conflict of interest statement

Giannis Mountzios reports advisory and consultation fees from AstraZeneca, BMS, MSD, Roche, Takeda, Novartis, AMGEN, Pfizer, Takeda, GSK, and Sanofi; travel and accommodation fees from AstraZeneca, BMS, MSD, Roche, Takeda, Novartis, GSK, and Sanofi; and PI in sponsored clinical trials from Novartis, Roche, MSD, AstraZeneca, Merck, ΒΜS, AMGEN, Ιmmunomedics, GSK, and Sanofi. The other authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Next-generation sequencing can be performed on distinct small biopsies, including fine-needle aspiration of solid (A) and cystic (B) pancreatic masses, biliary brushings of biliary tract strictures (C), pancreatic juice collected from the duodenum (D), and blood-based liquid biopsy (E).
See this image and copyright information in PMC

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