title: Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture.
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.
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Meng-Dan
authors.initials: MD
authors.lastname: Xu
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Shu-Ling
authors.initials: SL
authors.lastname: Liu
authors.affiliation: Department of Pathology, The Second Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Yi-Zhong
authors.initials: YZ
authors.lastname: Feng
authors.affiliation: Department of Pathology, Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Shen
authors.affiliation: Department of General Surgery, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Qiaoming
authors.initials: Q
authors.lastname: Zhi
authors.affiliation: Department of Respiratory Medicine, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Zeyi
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Gu
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Yu
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.|Department of Oncology, The First Affiliated Hospital of Zhejiang Chinese Medicine University, Hangzhou 310006, China.
authors.forename: Liu-Mei
authors.initials: LM
authors.lastname: Shou
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Fei-Ran
authors.initials: FR
authors.lastname: Gong
authors.affiliation: Xi'an Tianlong Science and Technology Co., Ltd., Xi'an 710018, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Weiming
authors.initials: W
authors.lastname: Duan
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Chen
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Junning
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Meng-Yao
authors.initials: MY
authors.lastname: Wu
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.|PREMED Key Laboratory for Precision Medicine, Soochow University, Suzhou 215021, China.|Jiangsu Institute of Clinical Immunology, Suzhou 215006, China.|Institute of Medical Biotechnology, Soochow University, Suzhou 215021, China.
authors.forename: Min
authors.initials: M
authors.lastname: Tao
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.|PREMED Key Laboratory for Precision Medicine, Soochow University, Suzhou 215021, China.|Jiangsu Institute of Clinical Immunology, Suzhou 215006, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D015972:Gene Expression Regulation, Neoplastic; D063990:Gene Ontology; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D054643:INDEL Mutation; D007150:Immunohistochemistry; D053555:Keratin-5 / Q000378:metabolism; D053553:Keratin-6 / Q000378:metabolism; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D053555:Keratin-5; D053553:Keratin-6; C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
keywords: high throughput sequencing (HTS); in-solution hybrid capture; pancreatic adenocarcinoma; pancreatic squamous cell carcinoma