TABLE 1.

Pathology and genetic testing results for tumor samples

	Pathology	Karyotype	FISH	Chromosomal microarray analysis	DNA mutations (OncoKids)	Gene fusions (OncoKids and/or RT-PCR)
Diagnosis	Immunophenotype (flow cytometry): positive for CD19, CD20 (partial), CD22, CD34, CD38, CD13, CD33 (partial), and HLA-DR; negative for CD10, MPO, andTdT	46,XY,del(12)(p13) [3]/46,XY[27]	Negative for BCR/ABL1, ETV6/RUNX1, PBX1/TCF3 fusions and PDGFRB and KMT2A (mixed lineage leukemia) rearrangements	Not performed	Not performed	TCF3 Exon 11 (ENST00000262965)-ZNF384 Exon 2 (ENST00000396795)
B-ALL relapse, CD19- positive	Immunophenotype (flow cytometry): CD19 variable (dim to moderate), CD22 bright, CD10 variable (negative to dim), TdT, CD34, CD38, CD58, HLA-DR bright, CD123; negative for CD24, CD13, CD33, and MPO	46,XY[1]//46,XX[19] (posttransplant chimerism)	Positive for a loss of ETV6 (12p13) signal in 20% of the cells	Not performed	Not performed	TCF3 Exon 11 (ENST00000262965)-ZNF384 Exon 2 (ENST00000396795)
AML relapse, lineage switch	Immunophenotype (flow cytometry): positive for CD13, CD33 (partial, dim), CD34, CD117, CD123,CD11b (partial), CD38 (moderate) and CD7; negative for CD19, CD10, CD20, CD24, MPO, TdT, and CD22	46,XY[20]	Positive for a loss of ETV6 (12p13) signal in 18% of the cells	Copy number loss in: 7q36.1q36.3 (10.8 Mb), 12p13.31p12.3 (9.8 Mb), 13p13.31p12.3 (86.5 Mb), 16 q12.2q23.1 (19.6 Mb), 18 p11.32p11.21 (11.6 Mb) and 21q21.3q22.11 (5 Mb) Copy number gain in 8q21.11q24.3 (71.4 Mb)	NM 004119 (FLT3) c.1788_1789ins GGCCCTGATTT CAGAGAA (p.Glu596_Tyr597insGlyPro AspPheArgGlu)	TCF3 Exon 11 (ENST00000262965)-ZNF384 Exon 2 (ENST00000396795)