title: Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor.
abstract: Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer and has very few mutations that are shared between different patients. To better understand the intratumoral genetics underlying mutations of ccRCC, we carried out single-cell exome sequencing on a ccRCC tumor and its adjacent kidney tissue. Our data indicate that this tumor was unlikely to have resulted from mutations in VHL and PBRM1. Quantitative population genetic analysis indicates that the tumor did not contain any significant clonal subpopulations and also showed that mutations that had different allele frequencies within the population also had different mutation spectrums. Analyses of these data allowed us to delineate a detailed intratumoral genetic landscape at a single-cell level. Our pilot study demonstrates that ccRCC may be more genetically complex than previously thought and provides information that can lead to new ways to investigate individual tumors, with the aim of developing more effective cellular targeted therapies.
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Xun
authors.initials: X
authors.lastname: Xu
authors.forename: Yong
authors.initials: Y
authors.lastname: Hou
authors.forename: Xuyang
authors.initials: X
authors.lastname: Yin
authors.forename: Li
authors.initials: L
authors.lastname: Bao
authors.forename: Aifa
authors.initials: A
authors.lastname: Tang
authors.forename: Luting
authors.initials: L
authors.lastname: Song
authors.forename: Fuqiang
authors.initials: F
authors.lastname: Li
authors.forename: Shirley
authors.initials: S
authors.lastname: Tsang
authors.forename: Kui
authors.initials: K
authors.lastname: Wu
authors.forename: Hanjie
authors.initials: H
authors.lastname: Wu
authors.forename: Weiming
authors.initials: W
authors.lastname: He
authors.forename: Liang
authors.initials: L
authors.lastname: Zeng
authors.forename: Manjie
authors.initials: M
authors.lastname: Xing
authors.forename: Renhua
authors.initials: R
authors.lastname: Wu
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.forename: Xiao
authors.initials: X
authors.lastname: Liu
authors.forename: Dandan
authors.initials: D
authors.lastname: Cao
authors.forename: Guangwu
authors.initials: G
authors.lastname: Guo
authors.forename: Xueda
authors.initials: X
authors.lastname: Hu
authors.forename: Yaoting
authors.initials: Y
authors.lastname: Gui
authors.forename: Zesong
authors.initials: Z
authors.lastname: Li
authors.forename: Wenyue
authors.initials: W
authors.lastname: Xie
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Sun
authors.forename: Min
authors.initials: M
authors.lastname: Shi
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Cai
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Meiming
authors.initials: M
authors.lastname: Zhong
authors.forename: Jingxiang
authors.initials: J
authors.lastname: Li
authors.forename: Zuhong
authors.initials: Z
authors.lastname: Lu
authors.forename: Ning
authors.initials: N
authors.lastname: Gu
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Zhang
authors.forename: Laurie
authors.initials: L
authors.lastname: Goodman
authors.forename: Lars
authors.initials: L
authors.lastname: Bolund
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Huanming
authors.initials: H
authors.lastname: Yang
authors.forename: Karsten
authors.initials: K
authors.lastname: Kristiansen
authors.forename: Michael
authors.initials: M
authors.lastname: Dean
authors.forename: Yingrui
authors.initials: Y
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology*; D004268:DNA-Binding Proteins; D059472:Exome; D005787:Gene Frequency; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010802:Phylogeny; D010865:Pilot Projects; D025341:Principal Component Analysis; D059010:Single-Cell Analysis / Q000379:methods*; D014157:Transcription Factors / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C102195:PBRM1 protein, human; D014157:Transcription Factors; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human