Table 1. Summary of characteristics of... | American Society of Hematology

Table 1.

Summary of characteristics of 11 AML patients with RUNX1 mutations

Pt no.	Sex	Age, y	WBC, ×10⁹/L	FAB	Cytogenetics	Chromosomal aberrations	FLT3-ITD	KMT2A-PTD	Type of mutation	Nucleotide change	CR	SCT	Prognosis	VAF, %
Pt no.	Sex	Age, y	WBC, ×10⁹/L	FAB	Cytogenetics	Chromosomal aberrations	FLT3-ITD	KMT2A-PTD	Type of mutation	Amino acid change*	CR	SCT	Prognosis	VAF, %
1	F	14.3	123.1	M5a	46,XX[20]	−	+	+	Frameshift	c.968_969ins	No	Yes	Death	12.7
1	F	14.3	123.1	M5a	46,XX[20]	−	+	+	Frameshift	p.P323fs	No	Yes	Death	12.7
2	M	11.8	70.8	M5a	46,XY[20]	−	+	+	Missense	c.G511A	No	Yes	Death	45.5
2	M	11.8	70.8	M5a	46,XY[20]	−	+	+	Missense	p.D171N	No	Yes	Death	45.5
3	F	14.1	16.5	M1	46,XX[20]	−	−	+	Frameshift	c.989dupC	No	No	Death	37.8
3	F	14.1	16.5	M1	46,XX[20]	−	−	+	Frameshift	p.P330fs	No	No	Death	37.8
4	F	11.8	60.1	M4	46,XX[20]	−	−	+	Frameshift	c.1108dupC	Yes	Yes	Alive	18.0
4	F	11.8	60.1	M4	46,XX[20]	−	−	+	Frameshift	p.Q370fs	Yes	Yes	Alive	18.0
5	F	8	25.7	M0	46,XX[20]	−	+	NA	Frameshift	c.238_239insCCAGTGC	Yes	Yes	Death	5.0
5	F	8	25.7	M0	46,XX[20]	−	+	NA	Frameshift	p.R80PfsX33	Yes	Yes	Death	5.0
6	M	6	25.3	M4	46,XY[20]	NUP98-NSD1	−	NA	Frameshift	c.470delC	Yes	Yes	Death	11.6
6	M	6	25.3	M4	46,XY[20]	NUP98-NSD1	−	NA	Frameshift	p.P157fsX27	Yes	Yes	Death	11.6
7	M	9.9	38.7	M2	46,XY,t(8;19)(q22;p13) or t(8;19;21)(q22;p13;q22)[20]	RUNX1-RUNX1T1	−	−	Missense	c.G323A	No	No	Death	17.2
7	M	9.9	38.7	M2	46,XY,t(8;19)(q22;p13) or t(8;19;21)(q22;p13;q22)[20]	RUNX1-RUNX1T1	−	−	Missense	p.G108D	No	No	Death	17.2
8	M	11	17.1	M2	45,X,-Y,t(8;21)(q22;q22)[20]	RUNX1-RUNX1T1	−	NA	Frameshift	c.1087delC	Yes	No	Alive	15.6
8	M	11	17.1	M2	45,X,-Y,t(8;21)(q22;q22)[20]	RUNX1-RUNX1T1	−	NA	Frameshift	p.Q363fs	Yes	No	Alive	15.6
9	F	15.2	69.0	M5b	47,X,-Y,add(3)(q11.2),+6,add(6)(p21)x2,+7,del(8)(q24),der(8)t(1;8)(q11;q24),del(11)(q?),add(17)(p11.2)[7]/48,sl,+22[6]/47,sl,-14,+mar1[2]	Complex karyotype	−	−	Frameshift	c.341_342insCCTCT	No	Yes	Death	16.4
9	F	15.2	69.0	M5b		Complex karyotype	−	−	Frameshift	p.A115LfsX5	No	Yes	Death	16.4
10	M	1.9	16.1	M6a	46,XY,-7,+mar[17]/46,idem,del(6)(q?)[3]	Monosomy 7	−	−	Nonsense	c.C520T	No	Yes	Alive	32.0
10	M	1.9	16.1	M6a	46,XY,-7,+mar[17]/46,idem,del(6)(q?)[3]	Monosomy 7	−	−	Nonsense	p.R174X	No	Yes	Alive	32.0
11	F	2.3	195.1	M0	48,XX,+8,+21[3]/49, sl, del(6)(q?),+19[14]/49,sl,add(6)(q21),+19[3]	Trisomy8	−	−	Frameshift	c.725_731del	Yes	Yes	Alive	29.8
11	F	2.3	195.1	M0		Trisomy8	−	−	Frameshift	p.D242fs40	Yes	Yes	Alive	29.8

Pt no.	Sex	Age, y	WBC, ×10⁹/L	FAB	Cytogenetics	Chromosomal aberrations	FLT3-ITD	KMT2A-PTD	Type of mutation	Nucleotide change	CR	SCT	Prognosis	VAF, %
Pt no.	Sex	Age, y	WBC, ×10⁹/L	FAB	Cytogenetics	Chromosomal aberrations	FLT3-ITD	KMT2A-PTD	Type of mutation	Amino acid change*	CR	SCT	Prognosis	VAF, %
1	F	14.3	123.1	M5a	46,XX[20]	−	+	+	Frameshift	c.968_969ins	No	Yes	Death	12.7
1	F	14.3	123.1	M5a	46,XX[20]	−	+	+	Frameshift	p.P323fs	No	Yes	Death	12.7
2	M	11.8	70.8	M5a	46,XY[20]	−	+	+	Missense	c.G511A	No	Yes	Death	45.5
2	M	11.8	70.8	M5a	46,XY[20]	−	+	+	Missense	p.D171N	No	Yes	Death	45.5
3	F	14.1	16.5	M1	46,XX[20]	−	−	+	Frameshift	c.989dupC	No	No	Death	37.8
3	F	14.1	16.5	M1	46,XX[20]	−	−	+	Frameshift	p.P330fs	No	No	Death	37.8
4	F	11.8	60.1	M4	46,XX[20]	−	−	+	Frameshift	c.1108dupC	Yes	Yes	Alive	18.0
4	F	11.8	60.1	M4	46,XX[20]	−	−	+	Frameshift	p.Q370fs	Yes	Yes	Alive	18.0
5	F	8	25.7	M0	46,XX[20]	−	+	NA	Frameshift	c.238_239insCCAGTGC	Yes	Yes	Death	5.0
5	F	8	25.7	M0	46,XX[20]	−	+	NA	Frameshift	p.R80PfsX33	Yes	Yes	Death	5.0
6	M	6	25.3	M4	46,XY[20]	NUP98-NSD1	−	NA	Frameshift	c.470delC	Yes	Yes	Death	11.6
6	M	6	25.3	M4	46,XY[20]	NUP98-NSD1	−	NA	Frameshift	p.P157fsX27	Yes	Yes	Death	11.6
7	M	9.9	38.7	M2	46,XY,t(8;19)(q22;p13) or t(8;19;21)(q22;p13;q22)[20]	RUNX1-RUNX1T1	−	−	Missense	c.G323A	No	No	Death	17.2
7	M	9.9	38.7	M2	46,XY,t(8;19)(q22;p13) or t(8;19;21)(q22;p13;q22)[20]	RUNX1-RUNX1T1	−	−	Missense	p.G108D	No	No	Death	17.2
8	M	11	17.1	M2	45,X,-Y,t(8;21)(q22;q22)[20]	RUNX1-RUNX1T1	−	NA	Frameshift	c.1087delC	Yes	No	Alive	15.6
8	M	11	17.1	M2	45,X,-Y,t(8;21)(q22;q22)[20]	RUNX1-RUNX1T1	−	NA	Frameshift	p.Q363fs	Yes	No	Alive	15.6
9	F	15.2	69.0	M5b	47,X,-Y,add(3)(q11.2),+6,add(6)(p21)x2,+7,del(8)(q24),der(8)t(1;8)(q11;q24),del(11)(q?),add(17)(p11.2)[7]/48,sl,+22[6]/47,sl,-14,+mar1[2]	Complex karyotype	−	−	Frameshift	c.341_342insCCTCT	No	Yes	Death	16.4
9	F	15.2	69.0	M5b		Complex karyotype	−	−	Frameshift	p.A115LfsX5	No	Yes	Death	16.4
10	M	1.9	16.1	M6a	46,XY,-7,+mar[17]/46,idem,del(6)(q?)[3]	Monosomy 7	−	−	Nonsense	c.C520T	No	Yes	Alive	32.0
10	M	1.9	16.1	M6a	46,XY,-7,+mar[17]/46,idem,del(6)(q?)[3]	Monosomy 7	−	−	Nonsense	p.R174X	No	Yes	Alive	32.0
11	F	2.3	195.1	M0	48,XX,+8,+21[3]/49, sl, del(6)(q?),+19[14]/49,sl,add(6)(q21),+19[3]	Trisomy8	−	−	Frameshift	c.725_731del	Yes	Yes	Alive	29.8
11	F	2.3	195.1	M0		Trisomy8	−	−	Frameshift	p.D242fs40	Yes	Yes	Alive	29.8

+, positive; −, negative; CR, complete remission; FAB, French-American-British; ITD, internal tandem duplication; N/A, not available; PTD, partial tandem duplication; Pt no., patient number; SCT, stem cell transplantation; VAF, variant allele frequency; WBC, white blood cell count.

NCBI reference sequence; NM_001001890.

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