Molecular Characterization of Pancreatic Ductal Adenocarcinoma Using a Next-Generation Sequencing Custom-Designed Multigene Panel

• Published in: Diagnostics (Basel) Vol. 12; no. 5; p. 1058
• Main Authors: Malvi, Deborah, Vasuri, Francesco, Maloberti, Thais, Sanza, Viviana, De Leo, Antonio, Fornelli, Adele, Masetti, Michele, Benini, Claudia, Lombardi, Raffaele, Offi, Maria Fortuna, Di Marco, Mariacristina, Ravaioli, Matteo, Fiorino, Sirio, Franceschi, Enrico, Brandes, Alba A, Jovine, Elio, D'Errico, Antonietta, Tallini, Giovanni, de Biase, Dario
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.04.2022; MDPI
• Subjects: Archives & records; Cancer; Genes; KRAS; Laboratories; Lymphatic system; Medical prognosis; Metastasis; Multivariate analysis; Mutation; mutations; next-generation sequencing; pancreatic cancer; Pathology; Patients; PDAC; Statistical analysis; TP53; Tumors; United States > US; Italy; pancreatic cancer; KRAS; PDAC; mutations; next-generation sequencing; TP53
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics12051058

Despite the efforts made in the management of PDAC, the 5-year relative survival rate of pancreatic ductal adenocarcinoma (PDAC) still remains very low (10%). To date, precision oncology is far from being ready to be applied in cases of PDAC, although studies exploring the molecular and genetic alterations have been conducted, and the genomic landscape of PDAC has been characterized. This study aimed to apply a next-generation sequencing (NGS) laboratory-developed multigene panel to PDAC samples to find molecular alterations that could be associated with histopathological features and clinical outcomes. A total of 68 PDACs were characterized by using a laboratory-developed multigene NGS panel. and mutations were the more frequent alterations in 75.0% and 44.6% of cases, respectively. In the majority (58.7%) of specimens, more than one mutation was detected, mainly in and genes. mutation was significantly associated with a shorter time in tumor recurrence compared with wild-type tumors. Intriguingly, wild-type cases had a better short-term prognosis despite the lymph node status. In conclusion, our work highlights that the combination of mutation with the age of the patient and the lymph node status may help in predicting the outcome in PDAC patients.