Figure 1

Timeline of the clinical course of the index patient and results obtained from the analyzed primary tumor and metastatic lesions. (a) The timeline starts with a sketch illustrating the localization of the lesions we subjected to our analyses, that is primary tumor lesions A, B, C, and D and lymph node metastases LN15, LN17, and LNA from the right axilla as observed at the time of diagnosis. In the timeline, dates when clinical progress was noted are indicated with a blue bar and the time points of blood collections (B) by a red bar (for details see text). (b) Copy number profiles obtained by whole-genome sequencing from tumor C and lymph node metastasis LN17. The X-axis shows the chromosome, the Y-axis indicates log₂-ratios. (c) Mutation frequencies of genes PCDH20, OR4X1, ALK, DNPEP, SH3TC2, DDR2, MLL3, and PIK3CA as established by targeted deep sequencing in the tumor lesions and lymph node metastases. (d) The clonal evolutionary relationships of the analyzed lesions based on the frequency of single nucleotide variants (SNVs) as shown in (c). The arrow indicates an increase in the frequency of the respective SNV, the `+' a newly occurred SNV. The three lymph node metastases are indicated together in the circle labeled `LN'.