Abstract 383P
Background
Pancreatic cancer is a highly malignant tumor with a poor prognosis and 5-year survival rate is less than 10%. Surgical resection is the only possible effective means for radical cure of pancreatic cancer. However, the overall survival after radical operation increased from 18 to 26 months while the overall 5-year survival rate was only 5-20%. Therefore, how to stratify patients and predict the prognosis is the important problems to solve in pancreatic cure. We try to obtain the molecular prognosis marker for resectable pancreatic cancer by genes mutation analysis in this study.
Methods
In this study, paired bloods and tissues were collected for investigating the gene variations among 17 patients with pancreatic ductal adenocarcinoma. We selected a panel of 143 clinically relevant cancer genes for targeted sequencing of the whole exons. Freebayes software was used for mutation calling of the samples, and Pearson correlation coefficient was used for gene variations associations between bloods and tissues. The Kaplan-Meier survival analysis was performed for OS and PFS in all patients.
Results
A total of 11,918 gene variations was shared by both the tissues and bloods. The gene mutation frequency was consistent between tissues and bloods with Pearson correlation coefficient of 0.99. We selected 62 genes in tissues and 35 genes in bloods annotated with the pathogenesis relevant gene variation for further analysis. In total, 35 of 62 genes identified in tissues were detected in bloods where 85 of 120 gene variations in bloods were found in tissues. KRAS, TP53, BRCA2, PTPN11 and TSC2 were the most common mutated genes detected in the tissues, and BRCA2, BRCA1, TERT, TP53 were the most common mutated genes in bloods. The Kaplan-Meier survival analysis found that ATM-BRCA1 and BRCA2 mutation had a poorer prognosis.
Conclusions
In the study, mutations in 143 cancer related genes of paired bloods and tissues in 17 patients were detected and three mutation genes could be the diagnostic biomarker for verification in the future. We also revealed the consistency of gene mutations between the tissues and bloods to some extent. Our results provide the reference for cancer detection and treatment for resectable pancreatic cancer.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The Geneis Co. Ltd.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.
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