Nature: Spatial copy number analysis promises to distinguish benign from malignant tissue

Mutations can be inherited or acquired (somatic mutations)

Recently, researchers from the Royal Institute of Technology in Sweden, the University of Oxford and other institutions have demonstrated that spatial analysis of copy number patterns in benign and malignant tissues can provide new insights into the clonal evolution of cancer

Co-corresponding author Professor Joakim Lundeberg from the Royal Institute of Technology in Sweden said: "This high-resolution view helps us deal with complex ecosystems, such as cancer

The research team first used prostate tissue as the analysis object and adopted a spatial transcriptomic strategy

Using tens of thousands of regions in one patient's prostate tumor and nearby normal tissue, and as many as 120,000 tissue sample loci from more than 10 other individuals, they explored phylogenetic relationships between CNV-based clones

"Tissue clonal diversity differs significantly across the five tissue types, while genomes ranging from homogeneous to highly heterogeneous are present in both tumor and benign tissue," the authors note, adding, "spatial information can help us identify morphologically indistinct of small clonal units, which would be overlooked by laser capture microdissection or even random sampling of single cells

Notably, analysis of spatial loci showed that at least some of the cancer-related CNVs were also present in benign tissues of the same organ

Through phylogenetic analysis, the research team went on to track the evolution of cancer-associated clones in benign and malignant tissues, narrowing down copy number losses and gains that appear to be hallmarks of ancestral clones and herald CNVs found in mature tumor samples cluster

"Determining the transition from benign to malignant tissue is critical for improving early diagnosis of cancer," the authors explain, noting that the current findings "propose a model for how genomic instability can arise in benign tissue, which may represent an early event in cancer evolution

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Erickson, A.