Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Yong Hou
  • ,
  • Luting Song
  • ,
  • Ping Zhu
  • ,
  • Bo Zhang
  • ,
  • Ye Tao
  • ,
  • Xun Xu
  • ,
  • Fuqiang Li
  • ,
  • Kui Wu
  • ,
  • Jie Liang
  • ,
  • Di Shao
  • ,
  • Hanjie Wu
  • ,
  • Xiaofei Ye
  • ,
  • Chen Ye
  • ,
  • Renhua Wu
  • ,
  • Min Jian
  • ,
  • Yan Chen
  • ,
  • Wei Xie
  • ,
  • Ruren Zhang
  • ,
  • Lei Chen
  • ,
  • Xin Liu
  • ,
  • Xiaotian Yao
  • ,
  • Hancheng Zheng
  • ,
  • Chang Yu
  • ,
  • Qibin Li
  • ,
  • Zhuolin Gong
  • ,
  • Mao Mao
  • ,
  • Xu Yang
  • ,
  • Lin Yang
  • ,
  • Jingxiang Li
  • ,
  • Wen Wang
  • ,
  • Zuhong Lu
  • ,
  • Ning Gu
  • ,
  • Goodman Laurie
  • ,
  • Lars Bolund
  • Karsten Kristiansen, Biologisk institut, Danmark
  • Jian Wang
  • ,
  • Huanming Yang
  • ,
  • Yingrui Li
  • ,
  • Xiuqing Zhang, Danmark
  • Jun Wang, Biologisk institut, Danmark
Tumor heterogeneity presents a challenge for inferring clonal evolution and driver gene identification. Here, we describe a method for analyzing the cancer genome at a single-cell nucleotide level. To perform our analyses, we first devised and validated a high-throughput whole-genome single-cell sequencing method using two lymphoblastoid cell line single cells. We then carried out whole-exome single-cell sequencing of 90 cells from a JAK2-negative myeloproliferative neoplasm patient. The sequencing data from 58 cells passed our quality control criteria, and these data indicated that this neoplasm represented a monoclonal evolution. We further identified essential thrombocythemia (ET)-related candidate mutations such as SESN2 and NTRK1, which may be involved in neoplasm progression. This pilot study allowed the initial characterization of the disease-related genetic architecture at the single-cell nucleotide level. Further, we established a single-cell sequencing method that opens the way for detailed analyses of a variety of tumor types, including those with high genetic complex between patients.
OriginalsprogEngelsk
TidsskriftCell
Vol/bind148
Nummer5
Sider (fra-til)873-85
Antal sider13
ISSN0092-8674
DOI
StatusUdgivet - 2012

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