We review the utility of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA), a rapid, safe, cost-effective, and accurate diagnostic modality for evaluating pancreatic tumors. EUS-FNA is currently used for the diagnosis and staging of pancreatic tumors. The sensitivity of EUS-FNA for pancreatic malignancy ranges from 75% to 94%, and its specificity approaches 100% in most studies. However, EUS-FNA has some limitations in the diagnosis of well-differentiated or early-stage cancers. Recent evidence suggests that molecular biological analysis using specimens obtained by EUS-FNA improves diagnostic sensitivity and specificity, especially in borderline cytological cases. It was also reported that additional information regarding patient response to chemotherapy, surgical resectability, time to metastasis, and overall survival was acquired from the genetic analysis of specimens obtained by EUS-FNA. Other studies have revealed that the analysis of KRAS, MUC, p53, p16, S100P, SMAD4, and microRNAs is helpful in making the diagnosis of pancreatic carcinoma. In this paper, we describe the present state of genetic diagnostic techniques for use with EUS-FNA samples in pancreatic diseases. We also discuss the role of molecular biological analyses for the diagnosis of pancreatic carcinoma. 1. Introduction Pancreatic cancer is now the fifth-leading cause of cancer-related death in Japan, and the annual mortality due to pancreatic cancer is estimated to be over 20,000 individuals. The 5-year survival rate of pancreatic cancer is as low as 5.5%, and the poor prognosis is attributed to the difficulty in detection of the disease at an early stage due to its high malignancy potential, the propensity of the cancer to metastasize, and the cancer’s high resistance level to antitumor agents. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) was introduced into clinical practice in the early 1990s, and it is now considered one of the most useful methods for histological diagnosis and staging of pancreatic cancers [1, 2]. EUS-FNA of the pancreas is an efficient and minimally invasive procedure for the diagnosis and staging of pancreatic cancer. Various studies conducted since 2003 have found that EUS-FNA for pancreatic solid masses showed the following values: sensitivity, 78%–95%; specificity, 75%–100%; positive predictive value, 98%–100%; negative predictive value, 46%–80%; accuracy, 78%–95% [3]. However, specimens obtained by EUS-FNA are tiny and fragmented so that a definitive diagnosis is frequently challenging for pathologists. Nevertheless, it is
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