Fig. 1

Clonal evolution of ALL in patient D483. a Venn diagram shows mutations that occurred at leukemic diagnosis, bone marrow relapse, and testicular relapse in patient. b Cluster of mutations at initial marrow diagnosis, relapse of bone marrow, and testicle. c Clonal evolution lineage tree and sample composition of case D483. Lineage tree was constructed based on the constraint network using LICHeE [10]. Each node (circle) represents a sub-population of leukemic cells. Numbers inside circles indicate number of shared single nucleotide variants (SNVs, including synonymous SNVs and filtered with outliers of mutation cluster), numbers outside the circles show the mean VAF of each cluster. Color in each sample indicates mutational groups in that sub-population of cells, and the subdivision in a sample suggest potential mixed lineage pattern. GL germline, BM DX bone marrow at diagnosis, BM REL bone marrow at relapse, TES REL relapse in the testis