Fig. 2

Clonal evolution of ALL in patient D727. a Venn diagram shows mutations that occurred at leukemic diagnosis and relapse of bone-marrow and testicle in patient D727. b Cluster of mutations at diagnosis (DX), bone marrow relapse (REL), and testicular relapse (TES). c Clonal evolution lineage tree and sample composition of case D727. Lineage tree was constructed based on constraint network using LICHeE [10]. Each node (circle) represents a sub-population of leukemic cells. Numbers inside circles indicate number of shared SNVs (including synonymous SNVs and filtered with outliers of mutation cluster), numbers outside circles show mean VAF of each cluster. Color in each sample indicates mutational groups in that sub-population of cells, and subdivision in a sample suggest a potential mixed lineage pattern. GL germline, BM DX bone marrow at diagnosis, BM REL bone marrow at relapse, TES REL relapse at testis