title: Somatic Genetic Variation in Solid Pseudopapillary Tumor of the Pancreas by Whole Exome Sequencing.
abstract: Solid pseudopapillary tumor of the pancreas (SPT) is a rare pancreatic disease with a unique clinical manifestation. AlthoughCTNNB1gene mutations had been universally reported, genetic variation profiles of SPT are largely unidentified. We conducted whole exome sequencing in nine SPT patients to probe the SPT-specific insertions and deletions (indels) and single nucleotide polymorphisms (SNPs). In total, 54 SNPs and 41 indels of prominent variations were demonstrated through parallel exome sequencing. We detected thatCTNNB1mutations presented throughout all patients studied (100%), and a higher count of SNPs was particularly detected in patients with older age, larger tumor, and metastatic disease. By aggregating 95 detected variation events and viewing the interconnections among each of the genes with variations,CTNNB1was identified as the core portion in the network, which might collaborate with other events such as variations ofUSP9X,EP400,HTT,MED12, andPKD1to regulate tumorigenesis. Pathway analysis showed that the events involved in other cancers had the potential to influence the progression of the SNPs count. Our study revealed an insight into the variation of the gene encoding region underlying solid-pseudopapillary neoplasm tumorigenesis. The detection of these variations might partly reflect the potential molecular mechanism.
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. guomeng@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. guomeng@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. guomeng@fudanpci.org.
authors.forename: Meng
authors.initials: M
authors.lastname: Guo
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. luoguopei@hotmail.com.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. luoguopei@hotmail.com.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. luoguopei@hotmail.com.
authors.forename: Guopei
authors.initials: G
authors.lastname: Luo
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. jinkaizhou@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. jinkaizhou@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. jinkaizhou@fudanpci.org.
authors.forename: Kaizhou
authors.initials: K
authors.lastname: Jin
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. longjiang@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. longjiang@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. longjiang@fudanpci.org.
authors.forename: Jiang
authors.initials: J
authors.lastname: Long
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. Chenghe@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Chenghe@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. Chenghe@fudanpci.org.
authors.forename: He
authors.initials: H
authors.lastname: Cheng
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. luyu@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. luyu@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. luyu@fudanpci.org.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. wangzhengshi@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. wangzhengshi@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. wangzhengshi@fudanpci.org.
authors.forename: Zhengshi
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. yangchao@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. yangchao@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. yangchao@fudanpci.org.
authors.forename: Chao
authors.initials: C
authors.lastname: Yang
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. xujin@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. xujin@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. xujin@fudanpci.org.
authors.forename: Jin
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. niquanxing@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. niquanxing@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. niquanxing@fudanpci.org.
authors.forename: Quanxing
authors.initials: Q
authors.lastname: Ni
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. yuxianjun@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. yuxianjun@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. yuxianjun@fudanpci.org.
authors.forename: Xianjun
authors.initials: X
authors.lastname: Yu
authors.affiliation: Department of Pancreas Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China. liuchen@fudanpci.org.|Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. liuchen@fudanpci.org.|Pancreatic Cancer Institute, Fudan University, Shanghai 200032, China. liuchen@fudanpci.org.
authors.forename: Chen
authors.initials: C
authors.lastname: Liu
mesh_terms: D000328:Adult; D059472:Exome; D005260:Female; D014644:Genetic Variation; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D010179:Pancreas / Q000378:metabolism / Q000473:pathology*; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide
keywords: SNPs; SPT; exome sequencing; genetic variation; indels