Genomic Profiling of Pancreatic Cystic Tumors

Overview

This study aims to find out whether quantitative and qualitative analysis, including genetic mutation analysis, of samples obtained from patients with pancreatic cysts is associated with the risk of malignancy, and helpful in the differential diagnosis of mucinous and serous cysts. The study design is a single-arm prospective cohort observational study. Using blood, pancreatic cyst fluid, and pancreatic cyst tissue, genetic mutation analysis and measurement of various biomarkers are performed, and the relationship between these and malignancy or whether they are helpful in distinguishing mucinous and serous cysts is analyzed. The primary outcome is genetic variants of pancreatic cysts associated with malignancy. The secondary outcomes are factors including genetic variants that differentiate mucinous from serous cysts.

Pancreatic cysts, especially mucinous cysts, are precancerous lesions that can cause pancreatic cancer, and follow-up surveillance is important. However, there is a lack of clear medical evidence for the proper method and timing of follow-up, so the current follow-up strategies rely heavily on the opinions of experts. Although mucinous pancreatic cyst is known as a precancerous lesion, the incidence of cancer is about 1-5%. Therefore, if the risk of malignant disease can be more accurately predicted in patients with pancreatic cysts, patients with a high risk of malignant disease can be more intensively monitored and improved survival rates can be expected through early detection of pancreatic cancer. In addition, unnecessary medical resource consumption can be reduced by increasing the follow-up interval of pancreatic cyst patients with low risk of malignancy or not following them at all. To this end, in addition to imaging characteristics of pancreatic cysts, which are currently suggested as risk factors for malignancy in most guidelines for pancreatic cysts, differential diagnosis of pancreatic cysts based on new biomarkers such as genetic mutations and malignant risk assessment are necessary. Therefore, in this study, the investigators comprehensively analyze the blood, pancreatic cyst fluid, and pancreatic cyst tissue of patients with pancreatic cysts to explore biomarkers including genetic mutations that are helpful in the differential diagnosis of pancreatic cyst and the diagnosis of malignant tumors.