Single-Cell Multiomics Sequencing Reveals Prevalent Genomic Alterations in Tumor Stromal Cells of Human Colorectal Cancer

Cancer Cell. 2020 Dec 14;38(6):818-828.e5. doi: 10.1016/j.ccell.2020.09.015. Epub 2020 Oct 22.

Abstract

To what extent stromal cells in the tumor microenvironment (TME) are transformed by colorectal cancer (CRC) cells is unexplored. To dissect alterations in these non-malignant cells, we performed single-cell multiomics sequencing of 21 patients with microsatellite-stable CRCs and 6 cancer-free, elderly individuals. Surprisingly, somatic copy number alterations (SCNAs) are prevalent in immune cells, fibroblasts, and endothelial cells in both the TME and the normal tissues of each individual. Moreover, the proportions of fibroblasts with SCNAs in tumors (11.1%-47.7%) are much higher than those in adjacent normal tissues (1.1%-10.6%), with gain of chromosome 7 strongly enriched in the TME, clearly indicating clonal expansion. Furthermore, five genes (BGN, RCN3, TAGLN, MYL9, and TPM2) are identified as fibroblast-specific biomarkers of poorer prognosis of CRC. Our study provides evidence and functional relevance of pervasive genomic alterations in the stromal cells of TME in CRC.

Keywords: colorectal cancer; somatic copy number alterations; stromal cell; tumor microenvironment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biglycan / genetics
  • Biomarkers, Tumor / genetics*
  • Calcium-Binding Proteins / genetics
  • Case-Control Studies
  • Chromosomes, Human, Pair 7 / genetics*
  • Colorectal Neoplasms / genetics*
  • DNA Copy Number Variations*
  • Female
  • Gene Expression Profiling / methods*
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Male
  • Microfilament Proteins / genetics
  • Muscle Proteins / genetics
  • Myosin Light Chains / genetics
  • Prognosis
  • Sequence Analysis, RNA
  • Single-Cell Analysis / methods*
  • Stromal Cells / chemistry
  • Tropomyosin / genetics
  • Tumor Microenvironment

Substances

  • BGN protein, human
  • Biglycan
  • Biomarkers, Tumor
  • Calcium-Binding Proteins
  • MYL9 protein, human
  • Microfilament Proteins
  • Muscle Proteins
  • Myosin Light Chains
  • RCN3 protein, human
  • TPM2 protein, human
  • Tropomyosin
  • transgelin