Table 2 Gene mutation analysis by Illumina cancer myeloid panel

From: Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes

Patient ID	Gene	Mutation type	VAF at T0	VAF at T4	VAF at T6	VAF at T7	VAF at T8	VAF at T10	T0 vs Therapy *p < 0.01; p < 0.05	Clinical outcome	AML evolution	Time to AML evolution (months)	Duration of response (months)
1	TP53	c.376-1G>A - splice acceptor	18,10	38,75					***	SD	YES	8	0
2	DNMT3A	P904L	15,68				16,63		ns	CR	YES	28	24
3	IDH2	R140Q	37,40				8,50		***	mCR	YES	36	10
	SRSF2	P95L	51,90				10,60		***
	ASXL1	G646fs	32,00				9,90		***
4	ASXL1	G646	12,10					20,30	***	HI	YES	9	5
	RUNX1	G135D	11,70					21,70	***
	IDH1	R132C	0,32					21,20	***
	KIT	E562*	2,40					5,90	***
	SRSF2	P95L	4,80					29,10	***
5	SF3B1	R625C		14,48			18,60		**	SD	YES	14	0
6	ASXL1	G644fs	10,60				5,70		***	PR	YES	10	6
6	RUNX1	D133fs	10,60				4,50		***	PR	YES	10	6
7	DNMT3A	R882C	30,10				44,90		***	SD	YES	20	0
	RUNX1	c.509-3C>G splice donor	14,50				43,30		***
	NRAS	G12A	0				9,50		***
8	ASXL1	L890F	7,12				13,39		***	CR	NO	0	52
9	SF3B1	K700E	35,10				39,00		**	HI + mCR	NO	0	16
	TET2	K306fs	27,80				38,20		***
	TET2	L1360fs	26,70				38,20		***
10	TET2	L264fs	25,40				30,50		**	HI + mCR	NO	0	47
	TET2	I1873T	25,80				30,00		**
	PHF6	Y303*	42,00				46,90		***
11	TET2	K875fs	11,80					14,20	**	HI	YES	21	19
	TET2	Y1245fs	8,40					12,10	**
	SRSF2	p95H	9,80					5,40	**
	ASXL1	G646fs	10,10					14,10	**
	RUNX1	S322*	5,70					8,20	**
12	ASXL1	G643fs	8,40				10,20		**	HI + mCR	NO	0	6
13	DNMT3A	R882C	19,80				21,70		**	HI	YES	25	9
	CBL	c.1096-7A>G Spice site	14,30				19,90		***
	IDH2	R140Q	19,10				22,10		***
	CEBPA	inframe TAD2	32,50				32,60		ns
14	ASXL1	G635fs	27,30				14,90		***	CR	NO	0	50
15	TP53	c.97-2A>C - splice acceptor	50,03				3,10		***	HI + mCR	YES	15	11
16	DNMT3A	R882S	16,20				5,00		***	CR	NO	0	5
16	IDH2	R140Q	18,10				3,60		***	CR	NO	0	5
17	no somatic mutations								N/A	HI	NO	0	18
18	no somatic mutations								N/A	CR	NO	0	50
19	TET2	G1288fs	10,45	0,32					***	HI	NO	0	2
19	TET2	R1451fs	19,13	14,52					***	HI	NO	0	2
20	TET2	R1366H	50,10					48,80	ns	SD	YES	14	0
	SRSF2	P95H	9,30					18,80	***
	SRSF2	H99N	5,20					9,40	***
	SRSF2	P96FS	5,00					7,60	**
	CEBPA	H219fs	0					10,40	***
	CEBPA	S193fs	0					10,10	***
	ASXL1	G646fs	13,00					15,10	**
21	NRAS	G12V	18,72			15,57			**	HI	NO	0	3
	TET2	Q969fs	32,13			36,61			***
	TET2	E1401*	31,99			38,24			***
	SRSF2,MFSD11	P96fs	10,46			6,97			***
	SRSF2,MFSD11	P95H	20,69			20,00			ns
	CEBPA	P196dup	38,86			20,69			***
	RUNX1	R157fs	31,07			34,95			**
22	EZH2	S669R	44,90				32,10		***	HI	NO	0	5
	ASXL1	Y591fs	25,30				18,20		***
	RUNX1	c.497_508+3dupGAAGTGGAAGAGGTA Splice region	12,00				9,20		**
	ZRSR2	E65*	42,70				33,60		***
	ZRSR2	E74*	3,10				5,30		***
23	TET2	P1278Q	55,10				49,60		***	HI	YES	11	7
23	U2AF1	S34F	5,60				9,50		***	HI	YES	11	7
24	TET2	H650fs	35,83		33,74				**	SD	YES	9	0
	TET2	T1884A	38,51		37,21				ns
	CBL	G397V	38,99		36,36				**
	ASXL1	Q592*	37,62		35,75				**
25	TP53	V73Argfs	12,31				1,74		***	CR	YES	9	5
26	TET2	E846*	8,90				7,00		**	mCR	YES	13	3
	SRSF2	P95H	7,80				6,20		ns
	ASXL1	R693*	9,50				7,30		**
27	TP53	H179Q	1,90				5,79		***	SD	NO	0	0
	ASXL1	G646fs	29,73				22,45		***
	U2AF1	Q157P	38,97				25,41		***
28	TET2	C1135Y	12,00				29,70		***	HI + mCR	NO	0	14
	TET2	Y1244fs	12,70				29,60		***
	ASXL1	A640fs	12,50				30,40		***
	RUNX1	N182fs	1,90				23,40		***
29	no somatic mutations								N/A	CR	NO	0	32
30	NRAS	Y64C	1,14				6,26		***	mCR	NO	0	33
	TET2	P413fs	21,02				30,47		***
	TET2	Q1507*	51,44				42,60		***
	ASXL1	S1168fs	42,25				41,93		ns
	RUNX1	P95T	41,99				43,73		**

VAF variant allele frequency; T0 baseline; T4 4th cycle therapy; T6 6th cycle therapy; T7 7th cycle therapy; T8 8th cycle therapy; T10 10th cycle therapy; ns not significant; N/A not applicable
***p < 0.01 vs T0; **p < 0.05 vs T0

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Table 2 Gene mutation analysis by Illumina cancer myeloid panel

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