Table 2 Summary of identified mutations... | American Society of Hematology

Table 2

Summary of identified mutations in UTX, EZH2, and DNMT3A genes in patients with CMML and with CMML-derived AML

Sex	Age, y	WHO Dx	Metaphase cytogenetics	SNP-A lesions			UTX mutation	EZH2 mutation	DNMT3A mutation
Sex	Age, y	WHO Dx	Metaphase cytogenetics	Gain	Loss	CN-LOH	UTX mutation	EZH2 mutation	DNMT3A mutation
M	69	sAML	46,XX[20]	22q11.1	7q22.1	4q21.21qter 11q13.5qter	c.1324 C > T p.Gln442X*	Negative	Negative
M	78	CMML-1	46,XY,inv(3)(q21q26)[20]	N	N	N	c.2373 A > G p.Asn791Ser (homozygous)*	Negative	Negative
F	53	CMML-2	47,XX,+21[19]/46,XX[1]	N	N	11q22 3q25	c.2502 G > T p.Glu834Asp*	Negative	Negative
M	78	sAML	46,XY[20]	N	N	X	c.2765 G > A p.Arg922Lys*	Negative	c.2645 G > A p.Arg882His†
F	65	CMML-2	46,XX[20]	N	12q24.31	7q11.23qter 14q23.2qter	c.3551 delA p.Asn1184fsX2*	Negative	Negative
F	60	CMML-1	46,XX,der(16)t(1;16)(q12;q11.2) [17]/46,XX[3]	1p11.2qter 8q12.1	16p11.1qter	N	c.808 A > G p.Ile270Val*	Negative	Negative
F	76	CMML-1	46,XX[20]	8p23.2	N	N	Negative	c.1747 C > T p.Arg583X†	Negative
M	60	sAML	45,X,-Y[20]	N	N	4q23qter 7q11.23qter	Negative	c.2006-2063 (dup57nt) p.Ser669fs (homozygous)	Negative
F	78	CMML-1	47, XX, +8	8p23.2-q24.3	7q34	7q11.21-q36.3	Negative	c.2069 G > A p.Arg690His (homozygous)†	Negative
M	69	CMML-1	46,XY[17]	N	N	7q22.1qter	Negative	c.2193 C > G p.Tyr731X (homozygous)†	Negative
M	72	sAML	46,XY[20]	Yq11.23	N	2pterp14	Negative	Negative	c.2096 G > A p. Gly699Asp (homozygous)
F	69	CMML-2	46,XX[20]	N	N	2p11.2p25.3	Negative	Negative	c.2446 C > T p. Gln816X (homozygous)
M	68	sAML	46,XY[20]	N	N	13	Negative	Negative	c.2644 C > T p.Arg882Cys†
M	72	sAML	46,XY[20]	N	N	3p21.31p21.1	Negative	Negative	c.2645 G > A p.Arg882His†
F	74	sAML	46,XX,−7[3]/46,XX,add(12)(p13)[4]/46,XX,−7, add(12)(p13)[2]/46,XX[11]	Yp11.2	7	N	Negative	Negative	c.2191 del (TTC) p.Phe731
F	58	CMML-2	46,XX,del(17)(q24)[6]/46,XX[24]	21q22 13q22.2	2q24 3q32.1	1p36.13pter	Negative	Negative	c.2645 G > C p.Arg882Pro†

Sex	Age, y	WHO Dx	Metaphase cytogenetics	SNP-A lesions			UTX mutation	EZH2 mutation	DNMT3A mutation
Sex	Age, y	WHO Dx	Metaphase cytogenetics	Gain	Loss	CN-LOH	UTX mutation	EZH2 mutation	DNMT3A mutation
M	69	sAML	46,XX[20]	22q11.1	7q22.1	4q21.21qter 11q13.5qter	c.1324 C > T p.Gln442X*	Negative	Negative
M	78	CMML-1	46,XY,inv(3)(q21q26)[20]	N	N	N	c.2373 A > G p.Asn791Ser (homozygous)*	Negative	Negative
F	53	CMML-2	47,XX,+21[19]/46,XX[1]	N	N	11q22 3q25	c.2502 G > T p.Glu834Asp*	Negative	Negative
M	78	sAML	46,XY[20]	N	N	X	c.2765 G > A p.Arg922Lys*	Negative	c.2645 G > A p.Arg882His†
F	65	CMML-2	46,XX[20]	N	12q24.31	7q11.23qter 14q23.2qter	c.3551 delA p.Asn1184fsX2*	Negative	Negative
F	60	CMML-1	46,XX,der(16)t(1;16)(q12;q11.2) [17]/46,XX[3]	1p11.2qter 8q12.1	16p11.1qter	N	c.808 A > G p.Ile270Val*	Negative	Negative
F	76	CMML-1	46,XX[20]	8p23.2	N	N	Negative	c.1747 C > T p.Arg583X†	Negative
M	60	sAML	45,X,-Y[20]	N	N	4q23qter 7q11.23qter	Negative	c.2006-2063 (dup57nt) p.Ser669fs (homozygous)	Negative
F	78	CMML-1	47, XX, +8	8p23.2-q24.3	7q34	7q11.21-q36.3	Negative	c.2069 G > A p.Arg690His (homozygous)†	Negative
M	69	CMML-1	46,XY[17]	N	N	7q22.1qter	Negative	c.2193 C > G p.Tyr731X (homozygous)†	Negative
M	72	sAML	46,XY[20]	Yq11.23	N	2pterp14	Negative	Negative	c.2096 G > A p. Gly699Asp (homozygous)
F	69	CMML-2	46,XX[20]	N	N	2p11.2p25.3	Negative	Negative	c.2446 C > T p. Gln816X (homozygous)
M	68	sAML	46,XY[20]	N	N	13	Negative	Negative	c.2644 C > T p.Arg882Cys†
M	72	sAML	46,XY[20]	N	N	3p21.31p21.1	Negative	Negative	c.2645 G > A p.Arg882His†
F	74	sAML	46,XX,−7[3]/46,XX,add(12)(p13)[4]/46,XX,−7, add(12)(p13)[2]/46,XX[11]	Yp11.2	7	N	Negative	Negative	c.2191 del (TTC) p.Phe731
F	58	CMML-2	46,XX,del(17)(q24)[6]/46,XX[24]	21q22 13q22.2	2q24 3q32.1	1p36.13pter	Negative	Negative	c.2645 G > C p.Arg882Pro†

Dx indicates diagnosis.

Variants not identified in 400 male controls.³⁵

†

Variants of somatic origin by analyses of nonclonal CD3 cells or previously described in the literature as somatic and collected in COSMIC.³⁶

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