Spatially resolved clonal copy number alterations in benign and malignant tissue

Nature. 2022 Aug;608(7922):360-367. doi: 10.1038/s41586-022-05023-2. Epub 2022 Aug 10.

Abstract

Defining the transition from benign to malignant tissue is fundamental to improving early diagnosis of cancer1. Here we use a systematic approach to study spatial genome integrity in situ and describe previously unidentified clonal relationships. We used spatially resolved transcriptomics2 to infer spatial copy number variations in >120,000 regions across multiple organs, in benign and malignant tissues. We demonstrate that genome-wide copy number variation reveals distinct clonal patterns within tumours and in nearby benign tissue using an organ-wide approach focused on the prostate. Our results suggest a model for how genomic instability arises in histologically benign tissue that may represent early events in cancer evolution. We highlight the power of capturing the molecular and spatial continuums in a tissue context and challenge the rationale for treatment paradigms, including focal therapy.

MeSH terms

  • Clone Cells* / metabolism
  • Clone Cells* / pathology
  • DNA Copy Number Variations* / genetics
  • Early Detection of Cancer
  • Genome, Human
  • Genomic Instability* / genetics
  • Genomics
  • Humans
  • Male
  • Models, Biological
  • Neoplasms* / genetics
  • Neoplasms* / pathology
  • Prostate / metabolism
  • Prostate / pathology
  • Prostatic Neoplasms / genetics
  • Prostatic Neoplasms / pathology
  • Spatial Analysis*
  • Transcriptome / genetics