Leveraging single-cell sequencing to unravel intratumour heterogeneity and tumour evolution in human cancers

Amy L. Bowes, Maxime Tarabichi, Nischalan Pillay, Peter Van Loo

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations

Abstract

Intratumour heterogeneity (ITH) and tumour evolution are well-documented phenomena in human cancers. While the advent of next-generation sequencing technologies has facilitated the large-scale capture of genomic data, the field of single-cell genomics is nascent but rapidly advancing and generating many new insights into the complex molecular mechanisms of tumour biology. In this review, we provide an overview of current single-cell DNA sequencing technologies, exploring how recent methodological advancements have enumerated new insights into ITH and tumour evolution. Areas highlighted include the potential power of single-cell genome sequencing studies to explore evolutionary dynamics contributing to tumourigenesis through to progression, metastasis, and therapy resistance. We also explore the use of in situ sequencing technologies to study ITH in a spatial context, as well as examining the use of single-cell genomics to perform lineage tracing in both normal and malignant tissues. Finally, we consider the use of multimodal single-cell sequencing technologies. Taken together, it is hoped that these many facets of single-cell genome sequencing will improve our understanding of tumourigenesis, progression, and lethality in cancer, leading to the development of novel therapies.

Original languageEnglish (US)
Pages (from-to)466-478
Number of pages13
JournalJournal of Pathology
Volume257
Issue number4
DOIs
StatePublished - Jul 2022

Keywords

  • clone
  • copy number aberrations (CNAs)
  • intratumour heterogeneity (ITH)
  • single-cell DNA sequencing
  • subclone
  • tumour evolution
  • tumour phylogeny

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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