FigureĀ 1.
WGS analysis of t(7;12)(q36;p13) AML. (A) Copy numbers (blue, loss; red, gain), structural rearrangements (green bow connecting 2 chromosomes), and mutations in known AML driver genes for 6 t(7;12)(q36;p13) AML samples based on WGS. Samples T1, T2, T3, and T4 were profiled in this study, whereas TARGET-20-PARUNX and TARGET-20-PASIBG are from the TARGET-AML cohort 15. (B) Sketch of the rearranged chr7 and chr12 and zoom-in on the region around the break points. (C) Schematic overview of chr7 (turquoise), chr12 (orange), and derivative chromosomes der(12) and der(7) resulting from the reciprocal t(7;12) translocation involving MNX1 on chr7 and ETV6 on chr12. Red lines indicate positions of break/fusion points.