Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors

Nat Genet. 2017 May;49(5):708-718. doi: 10.1038/ng.3818. Epub 2017 Mar 20.

Abstract

Intratumoral heterogeneity is a major obstacle to cancer treatment and a significant confounding factor in bulk-tumor profiling. We performed an unbiased analysis of transcriptional heterogeneity in colorectal tumors and their microenvironments using single-cell RNA-seq from 11 primary colorectal tumors and matched normal mucosa. To robustly cluster single-cell transcriptomes, we developed reference component analysis (RCA), an algorithm that substantially improves clustering accuracy. Using RCA, we identified two distinct subtypes of cancer-associated fibroblasts (CAFs). Additionally, epithelial-mesenchymal transition (EMT)-related genes were found to be upregulated only in the CAF subpopulation of tumor samples. Notably, colorectal tumors previously assigned to a single subtype on the basis of bulk transcriptomics could be divided into subgroups with divergent survival probability by using single-cell signatures, thus underscoring the prognostic value of our approach. Overall, our results demonstrate that unbiased single-cell RNA-seq profiling of tumor and matched normal samples provides a unique opportunity to characterize aberrant cell states within a tumor.

MeSH terms

  • A549 Cells
  • Algorithms
  • Cell Line
  • Cell Line, Tumor
  • Cluster Analysis
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Epithelial-Mesenchymal Transition / genetics
  • Fibroblasts / metabolism
  • Gene Expression Profiling / methods*
  • Gene Expression Regulation, Neoplastic*
  • Genetic Heterogeneity
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • K562 Cells
  • Principal Component Analysis
  • Prognosis
  • Sequence Analysis, RNA / methods
  • Single-Cell Analysis / methods*
  • Survival Analysis
  • Transcriptome*