Pancreatic ductal adenocarcinoma (PDAC) is expected to become the second leading cause of cancer-associated death in the next decade or so. It is widely accepted that tumorigenesis is linked to specific alterations in key genes and pancreatic neoplasms are some of the best characterized at the genomic level. Recent whole-exome and whole-genome sequencing analyses confirmed that PDAC is frequently characterized by mutations in a set of four genes among others: KRAS, TP53, CDKN2A/p16, and SMAD4. Sequencing, for example, is the preferable technique available for detecting KRAS mutations, whereas in situ immunochemistry is the main approach for detecting TP53 gene alteration. Nevertheless, the diagnosis of PDAC is still a clinical challenge, involving adequate acquisition of endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) and specific pathological assessment from tissue architecture to specific biomolecular tests. The aim of the present review is to provide a complete overview of the current knowledge of the biology of pancreatic cancer as detected by the latest biomolecular techniques and, moreover, to propose a paradigm for strict teamwork collaboration in order to improve the correct use of diagnostic sources.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society. 2017 Feb 11 [Epub ahead of print]
Carlo Fabbri, Giulia Gibiino, Adele Fornelli, Vincenzo Cennamo, Daniela Grifoni, Michela Visani, Giorgia Acquaviva, Matteo Fassan, Sirio Fiorino, Silvia Giovanelli, Marco Bassi, Stefania Ghersi, Giovanni Tallini, Elio Jovine, Antonio Gasbarrini, Dario de Biase
Unit of Gastroenterology and Digestive Endoscopy, AUSL Bologna Bellaria-Maggiore Hospital, Italy., Medical Pathology, Department of Internal Medicine, Gastroenterology Division, Policlinico Universitario A. Gemelli, Catholic University of Sacred Heart, Rome, Italy., Anatomic Pathology Unit, AUSL of Bologna, Maggiore Hospital, Italy., Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Italy., Department of Medicine (DIMES), Molecular Diagnostic Unit AUSL of Bologna, University of Bologna School of Medicine, Italy., Department of Medicine, Anatomic Pathology, University of Padua, Padova, Italy., Internal Medicine Unit, Maggiore Hospital, Bologna, Italy.