TABLE 1.

SALL4 & p53 double positive cells and karyotypes & mutations in MDS.

Sample number	Cytogenetics	Mutations	% of SALL4 & p53 DP cells (C9)	TP53 mutations, if present	VAF	Variant description
1	44,X,‐Y,−5,−7,8,−9,add(17)(p11.2),−18,−20 +mar1,mar2,mar3[12]/46,XY[3]	GNAS, GATA2, KMT2C, TP53	56.3	c.476C > T	.58	Missense variant in DNA binding region
2	46,XY,−6,−17,−19,−20,+mar1, +,mar2[15]/46,XY[5]	KMT2C, TP53	40	c.782+1G > C	.46	Intronic splice site variant, DNA binding domain
3	46,XX,+1,der(1;7)(q10;p10){11]/45, idem, −18[4]/46,XX[5]	KMT2C	22.5	–	–	–
4	46,XX,t(3;21)(q26.2;q22.1)[20]	CALR, GATA2, KIT	14.3	–	–	–
5	46,XY,der(1;7)(q10;p10)[1]/46,XY[19]	ETNK1, FLT3, KMT2C, TET2, ZRSR2,	13.02	–	–	–
6	46,XY,+1,der(1;7)(q10;p10)[6]/idem,del(20)(q1?)[11]/46,XY[3]	ETNK1, EZH2, GATA2, PTPN11, SETBP1, TERT	9.54	–	–	–
7	42,XY,−4,−5,−7,add(7),9,add(12)(p11.2),add(12)(q24.1),add(13)(p11.2),−17,−18,−20,+mar1,+mar2,+mar3[15]/46,XY[3]	MYBL2, TP53	6.74	p.V173*	.45	Frameshift variant affecting DNA binding domain
8	46,XX, del(20)(q1?)[5]/46,XX[15]	DNMT3A, GATA2, GNAS, SF3B1	5.33	–	–	–
9	46,XY	DNMT3A, ETNK1, SF3B1, TET2	3.68	–	–	–
10	46,XY	PRPF8, RUNX1, SF3B1, TET2	2.43	–	–	–

Abbreviations: DP, double positive; VAF, variant allelic frequency.