Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture

// Meng-Dan Xu 1, * , Shu-Ling Liu 2, * , Yi-Zhong Feng 3, * , Qiang Liu 4, * , Meng Shen 1 , Qiaoming Zhi 5 , Zeyi Liu 6 , Dong-Mei Gu 7 , Jie Yu 7 , Liu-Mei Shou 1, 8 , Fei-Ran Gong 9 , Qi Zhu 10 , Weiming Duan 1 , Kai Chen 1 , Junning Zhang 2 , Meng-Yao Wu 1 , Min Tao 1, 11, 12, 13 , Wei Li 1, 11, 12 1 Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 2 Department of Radiation Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 3 Department of Pathology, The Second Affiliated Hospital of Soochow University, Suzhou 215006, China 4 Department of Pathology, Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China 5 Department of General Surgery, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 6 Department of Respiratory Medicine, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 7 Department of Pathology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 8 Department of Oncology, The First Affiliated Hospital of Zhejiang Chinese Medicine University, Hangzhou 310006, China 9 Department of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China 10 Xi'an Tianlong Science and Technology Co., Ltd., Xi'an 710018, China 11 PREMED Key Laboratory for Precision Medicine, Soochow University, Suzhou 215021, China 12 Jiangsu Institute of Clinical Immunology, Suzhou 215006, China 13 Institute of Medical Biotechnology, Soochow University, Suzhou 215021, China * These authors contributed equally to this work Correspondence to: Wei Li, email: liwei10@suda.edu.cn , dr_weili@163.com Min Tao, email: taomin@suda.edu.cn , mtao@medmail.com.cn Meng-Yao Wu, email: mywu@suda.edu.cn Keywords: pancreatic squamous cell carcinoma, pancreatic adenocarcinoma, high throughput sequencing (HTS), in-solution hybrid capture Received: October 21, 2016      Accepted: January 09, 2017      Published: January 16, 2017 ABSTRACT Squamous cell carcinoma (SCC) of pancreas is a rare histotype of pancreatic ductal carcinoma which is distinct from pancreatic adenocarcinoma (AC). Although there are standard treatments for pancreatic AC, no precise therapies exist for pancreatic SCC. Here, we screened 1033 cases of pancreatic cancer and identified 2 cases of pure SCC, which were pathologically diagnosed on the basis of finding definite intercellular bridges and/or focal keratin peal formation in the tumor cells. Immunohistochemistry assay confirmed the positive expression of CK5/6 and p63 in pancreatic SCC. To verify the genomic characteristics of pancreatic SCC, we employed in-solution hybrid capture targeting 137 cancer-related genes accompanied by high throughput sequencing (HTS) to compare the different genetic variants in SCC and AC of pancreas. We compared the genetic alterations of known biomarkers of pancreatic adenocarcinoma in different pancreatic cancer tissues, and identified nine mutated genes in SCC of pancreas: C7orf70, DNHD1, KPRP, MDM4, MUC6, OR51Q1, PTPRD, TCF4, TET2, and nine genes (ABCB1, CSF1R, CYP2C18, FBXW7, ITPA, KIAA0748, SOD2, SULT1A2, ZNF142) that are mutated in pancreatic AC. This study may have taken one step forward on the discovery of potential biomarkers for the targeted treatment of SCC of the pancreas.