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Updated: Nov 2, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Molecular alterations in pancreatic tumors
Michela Visani1, Giorgia Acquaviva1, Antonio De Leo1
1Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna-Molecular Diagnostic Unit, Azienda USL di Bologna, Bologna 40138, Italy.
Abstract:
Genetic alterations in pancreatic tumors can usually be classified in: (1) Mutational activation of oncogenes; (2) Inactivation of tumor suppressor genes; and (3) Inactivation of genome maintenance genes controlling the repair of DNA damage. Endoscopic ultrasound-guided fine-needle aspiration has improved pre-operative diagnosis, but the management of patients with a pancreatic lesion is still challenging. Molecular testing could help mainly in solving these "inconclusive" specimens. The introduction of multi-gene analysis approaches, such as next-generation sequencing, has provided a lot of useful information on the molecular characterization of pancreatic tumors. Different types of pancreatic tumors (e.g., pancreatic ductal adenocarcinomas, intraductal papillary mucinous neoplasms, solid pseudopapillary tumors) are characterized by specific molecular alterations. The aim of this review is to summarize the main molecular alterations found in pancreatic tumors.
Insights
Genetic alterations in pancreatic tumors involve oncogenes, tumor suppressors, and DNA repair genes. Molecular testing, including next-generation sequencing, aids in diagnosing pancreatic lesions and characterizing specific tumor types.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Pancreatic tumors exhibit genetic alterations including oncogene activation, tumor suppressor gene inactivation, and DNA repair gene dysfunction.
- Endoscopic ultrasound-guided fine-needle aspiration improves diagnosis but challenges remain for inconclusive specimens.
- Molecular testing offers potential solutions for ambiguous pancreatic lesion diagnoses.
Purpose of the Study:
- To review the primary molecular alterations identified in various pancreatic tumors.
- To highlight the utility of multi-gene analysis in characterizing pancreatic neoplasms.
Main Methods:
- Literature review summarizing key findings on genetic alterations in pancreatic tumors.
- Discussion of next-generation sequencing as a tool for molecular characterization.
Main Results:
- Pancreatic tumors are characterized by specific genetic profiles.
- Distinct molecular alterations define different pancreatic tumor types, such as pancreatic ductal adenocarcinomas and intraductal papillary mucinous neoplasms.
Conclusions:
- Understanding molecular alterations is crucial for diagnosing and managing pancreatic tumors.
- Advanced molecular techniques like next-generation sequencing enhance the characterization of pancreatic neoplasms.
