OGC P04 Spatial Sampling of Barrett's Oesophagus Reveals That Tumour Heterogeneity Is Not a Useful Predictor of Progression to Cancer

Publication
British Journal of Surgery, 109(Supplement 9) znac404. 167. Oxford University Press US https://doi.org/10.1093/bjs/znac404.167

Abstract: Background Intra-tumour heterogeneity has been well-described in oesophageal adenocarcinoma and Barrett’s oesophagus (BE) segments also consist of multiple clones (groups of cells which share mutations). In BE there is some suggestion that the number of individual genetic clones within the segment and the diversity of the segment can be predictors of progression to cancer. However, this was with pre- whole genome sequencing (WGS) methods. In this study we consider the detailed spatial maps of ten patients with different disease trajectories, using WGS, to determine the heterogeneity and correlate it with their progression. Methods We performed WGS (50x) on 35 high-quality, frozen, endoscopic biopsies taken spatially from ten cases (8 males, 2 females, median age 75 (range 31–83). This included 4 long-term non-dysplastic (ND) patients with long BE segments and 6 patients with dysplasia. We used the copy number and purity information (from Battenberg) and the somatic mutation clustering information (from DPClust) to infer the clonal and subclonal architecture of individual biopsies and looked at the spatial relationship between biopsies within the segment. Results In both ND and dysplastic BE we saw cells with unrelated patterns of mutations, or clones, implying completely separate origins for different parts of the segments. This suggests independent or parallel evolution. There was a higher burden of shared (truncal) mutations in the dysplastic biopsies (p=0.049), indicating a more recent clonal sweep with some clones being outcompeted. Dysplastic samples had more subclonal copy number aberrations and more clonal driver mutations. In addition, most of the driver gene alterations in the dysplastic trees occurred early, whereas CDKN2A, the p16 locus, was the only truncal mutation found on the ND clone trees. We did not find the number of clones or the diversity of the segment to differ between the two groups. Conclusions Each individual patient showed complex, distinct genomic features and evolutionary trajectories. Some cases arose from a single ancestral clone, while others had few shared mutational variants suggesting multiple clones. Importantly, in this sample of cases we did not see any trend that the clonal diversity or number of clones correlated with progression to cancer. This is different to previous studies and highlights the importance of multiple sampling to determine the propensity for cancer progression even if the samples look similar histologically.

Related