Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease and delayed diagnosis leads to additional morbidity and mortality. The majority of patients are diagnosed through histopathologic evaluation of endoscopic ultrasound-fine needle aspiration tissue. However, this diagnostic modality can be non-diagnostic, delaying diagnosis and treatment.
Methods
By performing RNA sequencing on EUS-FNA derived pancreatic samples, we developed a novel 17-gene expression panel that can distinguish PDAC from benign pancreatic tissue. We benchmarked the diagnostic performance of this 17-gene expression panel and KRAS codon 12 missense mutation detection using ddPCR in an independent cohort of 60 pancreatic EUS-FNA samples to determine if genomic and transcriptomic biomarkers can improve the diagnostic accuracy of EUS-FNA in PDAC diagnosis.
Results
We show that by combining KRAS codon 12 missense mutation detection with our 17-gene gene expression panel can improve the diagnostic accuracy of EUS-FNA from 78.6% (95% CI - 73.2%-83.2%) to 91.6%.
Conclusion
Our study establishes the utility of using genomic markers to improve the diagnostic accuracy of EUS-FNA in diagnosing PDAC.