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

Autor: Junning Zhang, Wei-Ming Duan, Meng Shen, Jie Yu, Zeyi Liu, Fei-Ran Gong, Shu-Ling Liu, Liu-Mei Shou, Min Tao, Yi-Zhong Feng, Wei Li, Meng-Dan Xu, Meng-Yao Wu, Dong-Mei Gu, Kai Chen, Qiang Liu, Qi Zhu, Qiaoming Zhi
Rok vydání: 2017
Předmět:
0301 basic medicine
Pathology
medicine.medical_specialty
in-solution hybrid capture
Pancreatic squamous cell carcinoma
Adenocarcinoma
medicine.disease_cause
Polymorphism
Single Nucleotide

Diagnosis
Differential

03 medical and health sciences
0302 clinical medicine
INDEL Mutation
Pancreatic cancer
Keratin
pancreatic adenocarcinoma
Biomarkers
Tumor

medicine
pancreatic squamous cell carcinoma
Humans
chemistry.chemical_classification
Mutation
business.industry
Tumor Suppressor Proteins
Keratin-6
High-Throughput Nucleotide Sequencing
Genomics
medicine.disease
Immunohistochemistry
high throughput sequencing (HTS)
Gene Expression Regulation
Neoplastic

Pancreatic Neoplasms
Keratin 5
stomatognathic diseases
Gene Ontology
030104 developmental biology
medicine.anatomical_structure
Oncology
chemistry
030220 oncology & carcinogenesis
Carcinoma
Squamous Cell

Keratin-5
Pancreas
business
Research Paper
Transcription Factors
Zdroj: Oncotarget
ISSN: 1949-2553
DOI: 10.18632/oncotarget.14678
Popis: 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.
Databáze: OpenAIRE