ప్యాంక్రియాస్ జర్నల్ అందరికి ప్రవేశం

నైరూప్య

Genomic Profile of Pancreatic Cancer by Next Generation Sequence-A Single Center Experience

Teresa Gantes Padrao, Catarina Pulido, Tania Rodrigues, Goncalo Fernandes, Luis Mascarenhas, Patrícia Machado, Jose Luís Passos Coelho

Context Pancreatic cancer is the fourth most common cause of cancer death in Europe characterized by disappointing tumor response rates and high levels of resistance to standard treatments. Understanding genomic variations in pancreatic cancer is crucial, as they are known to contribute to pancreatic carcinogenesis and may provide fundamental knowledge for new and effective treatment strategies. Objective The main purpose of this exploratory study was to try to characterize the genomic profile of nine pancreatic tumors of patients treated at our institution. Methods Primary or metastatic tumor samples from patients with pancreatic cancer were analysed by FoundationOne CDx (F1CDx) Next Generation Sequencing (NGS) diagnostic test and clinical data were retrieved from the patients electronic medical record. Results Nine patients with cytological or histological documentation of pancreatic cancer treated at the Medical Oncology Department of Hospital da Luz Lisboa between October and December of 2017 were included. F1CDx NGS identified genomic variants with clinical significance in all 9 samples in the following genes: KRAS (7/9), TP53 (5/9), SMAD4 (3/9), CTNNB1 (1/9), CDKN2A (1/9), MDM4 (1/9), ARID1A (1/9), ARID2 (1/9), PIK3C2B (1/9) and FANCA (1/9). No tumor sample had microsatellite instability or high mutational burden. Actionable genomic alterations were identified in 7 tumors. However, no patient underwent targeted therapy. Conclusion This exploratory cohort, although small in size, documents the genetic heterogeneity of pancreatic carcinoma and confirms RAS, TP53 and SMAD4 as the most common genetic alteration in this tumor type. However the utility of this test to foster inclusion in clinical trials is also conditioned by their accessibility (at the time no such trials were open in Portugal). Further studies are needed to validate the clinical utility of F1CDx in clinical practice.