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

Bowes, Amy; Tarabichi, Maxime; Pillay, Nischalan; Van Loo, Peter; (2022) Leveraging single cell sequencing to unravel intra-tumour heterogeneity and tumour evolution in human cancers. Journal of Pathology 10.1002/path.5914. (In press).

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Abstract

Intra-tumour heterogeneity 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 intra-tumour heterogeneity 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 intra-tumour heterogeneity 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 multi-modal 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. This article is protected by copyright. All rights reserved.

Type: Article
Title: Leveraging single cell sequencing to unravel intra-tumour heterogeneity and tumour evolution in human cancers
Location: England
DOI: 10.1002/path.5914
Publisher version: https://doi.org/10.1002/path.5914
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: clone, copy number aberrations (CNAs), intra-tumour heterogeneity (ITH), single cell DNA sequencing, subclone, tumour evolution, tumour phylogeny
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
URI: https://discovery.ucl.ac.uk/id/eprint/10147163
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