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Pancreatic tumours are the fourth most common cause of cancer-related deaths in the world. Czech Republic has long been amongst countries with the highest incidence of pancreatic carcinoma. Mortality closely reflects incidence, because even at present time, we often fail to diagnose this disease in a timely and correct manner. Isoattenuating tumours that cannot be visualised on CT is one of the major diagnostic problems. In addition to CT, other imaging methods, such as abdominal ultrasonography, magnetic resonance imaging, endoscopic ultrasonography and positron emission tomography, play a crucial role in the diagnosis of pancreatic cancer. The article summarises essential information about pancreatic adenocarcinoma imaging and its distinction from other tumours. Among the most common neoplasms mentioned in its differential diagnosis are neuroendocrine tumours, solid pseudopapillary tumour, lymphoma and metastases into the pancreas. Although pancreatic adenocarcinoma forms the majority share of the number of solid pancreatic masses, it is important to think of other more rare lesions that can imitate this malignant disease. These include, for example, some congenital conditions, fatty infiltrationreplacement, peripancreatic lesions, other uncommon tumours or pancreatic sarcoidosis. The distinction of pancreatic adenocarcinoma from tumour-like chronic pancreatitis also deserves a separate chapter. [ABSTRACT FROM AUTHOR]

Pancreatic ductal adenocarcinoma (PDAC) has the worst prognosis among common solid cancer diagnoses. It has been shown that up to 10% of PDAC cases have a familial component. Characterization of PDAC-susceptibility genes could reveal high-risk individuals and patients that may benefit from tailored therapy. Hereditary mutations in PALB2 (Partner and Localizer of BRCA2) gene has been shown to predispose, namely to PDAC and breast cancers; however, frequencies of mutations vary among distinct geographical populations. Using the combination of sequencing, high-resolution melting and multiplex ligation-dependent probe amplification analyses, we screened the entire PALB2 gene in 152 unselected Czech PDAC patients. Truncating mutations were identified in three (2.0%) patients. Genotyping of found PALB2 variants in 1226 control samples revealed one carrier of PALB2 truncating variant (0.08%; P = 0.005). The mean age at PDAC diagnosis was significantly lower among PALB2 mutation carriers (51 years) than in non-carriers (63 years; P = 0.016). Only one patient carrying germline PALB2 mutation had a positive family breast cancer history. Our results indicate that hereditary PALB2 mutation represents clinically considerable genetic factor increasing PDAC susceptibility in our population and that analysis of PALB2 should be considered not only in PDAC patients with familial history of breast or pancreatic cancers but also in younger PDAC patients without family cancer history. [ABSTRACT FROM AUTHOR]