Table 7.

Targeted next-generation sequencing studies on intraductal papillary mucinous neoplasms of the pancreas and pancreatic ductal adenocarcinomas.

N	Findings	Clinical Implications	Reference
11 (oncocytic subtype IPMN; 11 TS, 2 WGS)	Typical oncocytic subtype IPMNs did not have KRAS or GNAS mutations and only one had both RNF43 and PIK3R1 mutations; ARHGAP26, ASXL1, EPHA8, and ERBB4 genes were mutated in more than one sample	Larger studies are required to explore the genetic profile and biologic behavior of the oncocytic subtype of IPMN	[130]
23 (IPMN)	Identification of distinct mechanisms for the development of cancer in patients with IPMN using tNGS	Potential stratification and surveillance of patients based on the risk for pancreatic cancer	[131]
TS on FNA samples from 29 pts (25 PDA, 4 AVC)	Most frequent mutations identified: KRAS (93%), TP53 (72%), SMAD4 (31%), and GNAS (10%) Feasibility, reliability and concordance of FNA as compared to tumor samples for tNGS analysis	FNA-based tNGS analysis enables biomarker-based patient selection for clinical trials	[132]
30 (PDA)	Substantial mutational heterogeneity (73%)	tNGS shapes the development of targeted therapy for pancreatic cancer	[133]
52 (48 IPMNs, 4 ITPNs)	GNAS was mutated in 38/48 (79%) IPMNs, KRAS in 24/48 (50%) both in 18/48 (37.5%); Other mutations were less frequent	Identification of mutations in cyst fluid could enhance diagnosis and prognostic stratification of pancreatic cystic neoplasms	[134]
76 (PDA)	22 candidate cases have been identified (14 KRAS wild-type, 5 HER2 amplifications, 2 mutations in BRCA2 and 1 ATM mutation)	The availability of drugs targeting these mutated or amplified genes (cetuximab, transtuzumab) enables basket design of clinical trials	[135]

Fine-needle aspiration (FNA); intraductal papillary mucinous neoplasm (IPMN); intraductal tubulopapillary neoplasm (ITPN); pancreatic ductal adenocarcinoma (PDA); patients (pts); targeted sequencing (TS); whole-genome sequencing (WGS).