Table 1 Summary of high-confidence... | American Society of Hematology

Table 1

Summary of high-confidence somatic SNVs and indels found in 50 AML patients

Karyotype group	Patient ID	SNVs	Indels
CBF-AML, inv(16)	04
CBF-AML, inv(16)	05	ATR*
CBF-AML, inv(16)	37	RSBN1L*	KIT†
CBF-AML, inv(16)	49	NRAS†
CBF-AML, inv(16)	50		NOTCH1*
CBF-AML, inv(16)	52	NRAS†
CBF-AML, t(8;21)	06	KIT,†NSD1†
CBF-AML, t(8;21)	07	KIT,†TRRAP*
CBF-AML, t(8;21)	26
CBF-AML, t(8;21)	27		MLLT4*
CBF-AML, t(8;21)	28	TET1*
CBF-AML, t(8;21)	47	KIT,†MAD1L1‡	DLEC1*
CBF-AML, t(8;21)	46		YAF2, EPHB3,* SALL4,* XRCC4,* IL3,* TET2,†ZNF45,* JARID2**
CBF-AML, t(8;21)	48	NRAS,†RUVBL2*	RAD21,§KDM4C*
CK-AML	08	RAD21§
CK-AML	11	TP53†	TP53,†UBE2C*
CK-AML	12	FLT3†	WT1,†LMNB1*
CK-AML	13	TET2,†H2AFY‡	DNMT3A,†PMAIP1*
CK-AML	14	DNMT1, ETV6,**KRAS†	WT1,†CTNND1*
CK-AML	44		APBB3*
CK-AML	45	E2F1*	JAK3*
CN-AML with NPM1	23	FLT3-TKD,†KDR*
CN-AML with NPM1	34	NRAS†
CN-AML with NPM1	31	DNMT3A†
CN-AML with NPM1	35	NSD1,†KRAS†	RAD21§
CN-AML with NPM1	02	IDH1†
CN-AML with NPM1	09		HNRNPF*
CN-AML with NPM1/FLT3-ITD	33	DNMT3A†	WT1†
CN-AML with NPM1/FLT3-ITD	15	SFPQ*	NEIL3*
CN-AML with NPM1/FLT3-ITD	25	TET2,†HIST1H2AA, LIG3**
CN-AML with NPM1/FLT3-ITD	10	CENPJ‡
CN-AML with FLT3-ITD	40
CN-AML with FLT3-ITD	42		WT1†
CN-AML with CEBPA	01	GATA2,†MLL, CHMP1A**
CN-AML with CEBPA	19
CN-AML with CEBPA	20		WT1†
CN-AML with CEBPA	32	TET2,†GATA2,†IKZF1, CCND2**	EP300*
CN-AML with CEBPA¶	51	KDM5A*	CTCF,*RUNX1,†PRDM2*
CN-AML with CEBPA	22	MLL3, CDKN2A**	MLL3*
CN-AML with CEBPA	21	TRIM24*	SIPA1, POLE**
CN-AML	38	EPHB2, GSG2**	FGF3*
CN-AML	39	EZH2,†IDH1,†NF1, LEF1,‡POT1,‡ANAPC2*‡
CN-AML	03	SPI1*	TET2,†CBLC*
CN-AML	16	DDX17,*NRAS†
CN-AML	17
CN-AML	18	MYC,†NRAS†	WT1†
CN-AML	24
CN-AML	29		ARID3C, UBE2C**
CN-AML	30	GATA2†	KRAS†
t(11q23;v)	43		TLE1*

Karyotype group	Patient ID	SNVs	Indels
CBF-AML, inv(16)	04
CBF-AML, inv(16)	05	ATR*
CBF-AML, inv(16)	37	RSBN1L*	KIT†
CBF-AML, inv(16)	49	NRAS†
CBF-AML, inv(16)	50		NOTCH1*
CBF-AML, inv(16)	52	NRAS†
CBF-AML, t(8;21)	06	KIT,†NSD1†
CBF-AML, t(8;21)	07	KIT,†TRRAP*
CBF-AML, t(8;21)	26
CBF-AML, t(8;21)	27		MLLT4*
CBF-AML, t(8;21)	28	TET1*
CBF-AML, t(8;21)	47	KIT,†MAD1L1‡	DLEC1*
CBF-AML, t(8;21)	46		YAF2, EPHB3,* SALL4,* XRCC4,* IL3,* TET2,†ZNF45,* JARID2**
CBF-AML, t(8;21)	48	NRAS,†RUVBL2*	RAD21,§KDM4C*
CK-AML	08	RAD21§
CK-AML	11	TP53†	TP53,†UBE2C*
CK-AML	12	FLT3†	WT1,†LMNB1*
CK-AML	13	TET2,†H2AFY‡	DNMT3A,†PMAIP1*
CK-AML	14	DNMT1, ETV6,**KRAS†	WT1,†CTNND1*
CK-AML	44		APBB3*
CK-AML	45	E2F1*	JAK3*
CN-AML with NPM1	23	FLT3-TKD,†KDR*
CN-AML with NPM1	34	NRAS†
CN-AML with NPM1	31	DNMT3A†
CN-AML with NPM1	35	NSD1,†KRAS†	RAD21§
CN-AML with NPM1	02	IDH1†
CN-AML with NPM1	09		HNRNPF*
CN-AML with NPM1/FLT3-ITD	33	DNMT3A†	WT1†
CN-AML with NPM1/FLT3-ITD	15	SFPQ*	NEIL3*
CN-AML with NPM1/FLT3-ITD	25	TET2,†HIST1H2AA, LIG3**
CN-AML with NPM1/FLT3-ITD	10	CENPJ‡
CN-AML with FLT3-ITD	40
CN-AML with FLT3-ITD	42		WT1†
CN-AML with CEBPA	01	GATA2,†MLL, CHMP1A**
CN-AML with CEBPA	19
CN-AML with CEBPA	20		WT1†
CN-AML with CEBPA	32	TET2,†GATA2,†IKZF1, CCND2**	EP300*
CN-AML with CEBPA¶	51	KDM5A*	CTCF,*RUNX1,†PRDM2*
CN-AML with CEBPA	22	MLL3, CDKN2A**	MLL3*
CN-AML with CEBPA	21	TRIM24*	SIPA1, POLE**
CN-AML	38	EPHB2, GSG2**	FGF3*
CN-AML	39	EZH2,†IDH1,†NF1, LEF1,‡POT1,‡ANAPC2*‡
CN-AML	03	SPI1*	TET2,†CBLC*
CN-AML	16	DDX17,*NRAS†
CN-AML	17
CN-AML	18	MYC,†NRAS†	WT1†
CN-AML	24
CN-AML	29		ARID3C, UBE2C**
CN-AML	30	GATA2†	KRAS†
t(11q23;v)	43		TLE1*

Patient IDs in bold italics indicate cases with damaging SNVs or frameshift indels in genes coding for epigenetic factors. This table excludes routinely screened aberrations (NPM1 and CEBPA mutations, FLT3-ITD).

SNV indicates single nucleotide variation; AML, acute myeloid leukemia; CN-AML, cytogenetically normal AML; CBF-AML, core-binding factor AML; CK-AML, complex karyotype AML; ITD, internal tandem duplication; and indel, insertion/deletion.

Nonrecurrent missense, nonsense, or frameshift somatic changes.

†

Previously reported in AML.

‡

Nonsilent on the protein level, but predicted to be benign.

Novel recurrent mutations.

‖All other somatic nonsilent mutations are predicted to be damaging.

FLT3-ITD positive.

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