Related Experiment Video
Updated: Sep 2, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Spatially resolved clonal copy number alterations in benign and malignant tissue
Andrew Erickson1, Mengxiao He2, Emelie Berglund2
1Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.
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.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Cancers Originate from Somatic Mutations in a Single Cell

