Mutated WT1, FLT3-ITD, and NUP98-NSD1 Fusion in Various Combinations Define a Poor Prognostic Group in Pediatric Acute Myeloid Leukemia

Table 2

Characteristics of WT1 Variants.

UPN	exon	seq. read	mutation sequence	amino acid alteration	VF (%)	dbSNP or COSMIC ID	published	previously reported sample	outcome
missense substitutions
8	9		c.1333C>T	p.Arg445Trp	19.1	rs121907900, COSM21417	Yes	WT	CCR
15	9		c.1345C>A	p.Leu449Met	5.49		No		CCR
20	9		c.1385G>A	p.Arg462Gln	47.21	rs121907903, COSM4191067	Yes	AML, colon cancer, adenocarcinoma	CCR
21	9		c.1343A>G	p.His448Arg	33.12	COSM7335365	Yes	AML, mesothelioma	CCR
23	9		c.1333C>T	p.Arg445Trp	72.42	rs121907900	Yes	WT, DDS	CCR
26	7		c.1097C>G	p.Ser366Cys	2.57		No		CCR
35	9	different	c.1334G>A	p.Arg445Gln	3.12	rs121907903, COSM4191067	Yes	AML, colon cancer, adenocarcinoma	Relapse
	9	different	c.1307G>A	p.Cys436Tyr	44.21	COSM21438	Yes	AML
nonsense substitutions/insertions, deletions or duplications
1	7		c.1090_1093dupTC	p.Ala365Valfs4	43	COSM5487332	Yes	AML	CCR
2	7		c.1048-4_1056dupGCAGGATGTGCGA	p.Arg353Alafs19	30.25		No		LFU in CCR
3	7		c.1087_1161dup74	p.Lys387Asnfs44	n.d.		No		Relapse
4	7	different	c.1087_1091dupCGGTC	p.Ala365Glyfs69	5.08	COSM28954	Yes	AML, T-ALL	Relapse
4	7	different	c.1091C>A	p.Ser364	28.38	COSM27307	Yes	AML, WT
5	7		c.1083_1098delTGTACGGTCGGCATCT	p.Val362Argfs65	46.82		No		NR/PR
6	7		c.1059dupT	p.Val354Cysfs14	35.9	COSM1317324	Yes	AML	Relapse
7	7		c.1179dupG	p.His394Alafs8	25		No		CCR
9	7	different	c.1078_1079insGCCGA	p.Thr360Serfs74	38.7		No		NR/PR
	7	different	c.1084_1085insGC	p.Val362Glyfs71	52.9		No
10	7		c.1074_1077dupCCCG	p.Thr360Profs9	9.9		No		CCR
11	7		c.1079_1090delCTCTTGTACGGTinsTGGG	p.Thr360Metfs5	55.23		No		CCR
12	7		c.1058_1059insGA	p.Val354Metfs5	31.6		No		CCR
13	7	different	c.1058_1059insGGTG	p.Pro355Cysfs14	5.6		No		Relapse
	7	different	c.1078_1084dupACTCTTG	p.Val362Aspfs8	8.3	COSM5879281	Yes	AML
14	7		c.1090_1093dupTCGG	p.Ala365Valfs4	22.81	COSM21392	Yes	AML	CCR
16	7		c.1054_1084dup	p.Val362Alafs16	7.3		No		CCR
17	7		c.1087delCinsGGG	p.Arg363Glyfs70	24.3		No		CCR
18	7		c.1054_1055insT	p.Arg352Leufs16	67.2	COSM5751511	Yes	T-ALL	CCR
19	7		c.1077_1078insTGTTTCTTCCGCCCAG	p.Thr360Cysfs13	36.95		No		Relapse
22	7		c.1087delCinsGG	p.Arg363Glyfs5	41.88		Yes	AML	CCR
24	7		c.1083_1090dupTGTACGGT	p.Ser364Leufs71	3.8	COSM27309	Yes	AML	CCR
25	9	different	c.1323_1338dupAAAGTTCTCCCGGTCC	p.Asp447Lysfs18	40.1		No		CCR
	9	different	c.1322_1332dupGAAAGTTCTCC	p.Arg445Glufs9	40.5		No
27	7	different	c.1077_1078insGTTG	p.Thr360Valfs9	43.71		No		CCR
	7	different	c.1089dupG	p.Ser364Valfs4	49.24	COSM28966	Yes	AML
28	7	different	c.1058delGinsCCA	p.Arg353Profs6	19.72		No		NR/PR
	7	different	c.1054_1055insAAAAAGATT	p.Arg352delins4	19.55		No
29	7		c.1179dupG	p.His394Alafs8	25		No		CCR
30	7		c.1048_1057delGATGTGCGACinsAAGG	p.Asp350_Arg353	46.34		No		CCR
31	7		c.1093dupG	p.Ala365Glyfs3	44.49		Yes	AML	NR/PR
32	7		c.1048-8_1055dupGCCTGCAGGATGTGCG	p.Arg353Profs20	2.5		No		NR/PR
33	7		c.1090_1091dupTC	p.Ala365Argfs68	44.25	COSM28955	Yes	AML	Relapse
34	7	different	c.1087delCinsGA	p.Arg363Glufs5	4.1		No		NR/PR
	7	different	c.1086dupA	p.Arg363Thrfs5	5.33	COSM1166631	Yes	AML
	7	different	c.1090_1093dupTC	p.Ala365Valfs4	36.29	COSM5487332	Yes	AML
36	7	different	c.1090_1093dupTCGG	p.Ala365Valfs4	6.94	COSM5487332	Yes	AML	NR/PR
	7	different	c.1091dupC	p.Ala365Glyfs3	39.42	COSM27304	Yes	AML
37	7	different	c.1057delCinsGG	p.Arg353Glyfs15	42.78		Yes	AML	CCR
	7	different	c.1087delCinsGGG	p.Arg363Glyfs70	52.11		No
38	7		c.1068_1076delAGTAGCCCCinsGACGGTCGTTATTA	p.Val357Thrfs77	42.14		No		CCR
39	7		c.1087delCinsGG	p.Arg363Glyfs5	47.54		Yes	AML	CCR
40	7	different	c.1058_1059insGGTGCCGCTCG	p.Gly356Leufs6	48.49		No		Early Death
	7	different	c.1082_1091dupTTGTACGGTC	p.Ala365Cysfs6	41.83	COSM27303	Yes	AML
41	7	different	c.1123dupA	p.Met375Asnfs9	44.5		Yes	AML	CCR
	7	different	c.1057_1058insTA	p.Arg353Leufs6	45.8		No
42	7		c.1051_1055dupGTGCG	p.Arg353Cysfs7	34.73		No		Relapse
43	7		c.1058delGinsCC	p.Arg353Profs15	44.78	COSM28946	Yes	AML	Relapse
44	7	different	c.1079_1101delinsGAA	p.Thr360Argfs4	20.37		No		Relapse
	7	different	c.1088_1089insCTCGG	p.Ala365Glyfs69	10.69		No
45	7		c.1090_1091insAGGT	p.Ser364fs1	42.97		No		Relapse
46	7		c.1058delGinsCC	p.Arg353Profs15	51.08	COSM28946	Yes	AML, T-ALL	NR/PR
47	7	different	c.1048-3_1055dupCAGGATGTGCG	p.Val354Metfs8	2.49		No		CCR
	7	different	c.1053dupG	p.Arg352Alafs16	3.83	COSM28980	Yes	AML
	7	different	c.1054delCinsGG	p.Arg352Glyfs16	35.86	COSM28970	Yes	AML, T-ALL
48	7		c.1089_1090insGGCCTCTTGTACGG	p.Ser364Glyfs73	40.49		No		Relapse

UPN, unique patient number; Seq. read, sequence read; VF, variant allele frequency; dup, duplication; ins, insertion; indel, Insertion-deletion; fs, frame-shift; termination codon; WT, Wilms tumor; DDS, Denis-Drash syndrome; T-ALL, T-cell acute lymphoblastic leukemia; CCR, continued complete remission, NR, non-response; PR, partial response; LFU, lost to follow-up.
Transcript ID: NM_000378 was used to describe all alterations.