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Fig. 3 | Genome Medicine

Fig. 3

From: Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer

Fig. 3

Intra-tumor heterogeneity observed in the MMRd EC PDX models. A Somatic genome-wide levels of CNA and B total somatic mutation count in the four MMRd models, where primary tumor sample was analyzed by WES and by SNP arrays. Tumor purity was estimated from the mode of somatic variant allele frequencies (Additional File 1: Fig. S10). Varying degrees of mutational heterogeneity visualized by Euler diagrams of somatic substitutions called by qBasepileup in C PDX59 and D PDX58 MMRd models. E Cellular prevalence and F the clonal evolution tree of the top three mutational clusters (with ≥5% of all somatic substitutions) detected in the PDX58 model by PyClone. Values shown above boxplots represent the number of substitutions contributing to each cluster. Length of branches is proportional to the number of substitutions attributed to that clone. Tumor samples are grouped by patient ID. PDX samples are labeled by passage number (F0—1st transplant, F1—2nd transplant, F2—3rd transplant, etc.) and lineage in brackets (A, B). DEL, deletion; DNP, double nucleotide polymorphism; INS, insertion; SNP, single nucleotide polymorphism; Hom Del, homozygous deletion

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