Table 1 Overview of DS TMD and DS AMKL... | American Society of Hematology

Table 1

Overview of DS TMD and DS AMKL samples analyzed by exome sequencing and SNP microarray

Patient	Diagnosis	Chr21	GATA1 sequence	SNP microarray	SCNA gain	SCNA loss	Exome sequence	Putative third-hit driver event?
TMD1	TMD	Trisomy	p.S12Fs	Yes				No
TMD2	TMD	Trisomy	p.50_61ins	Yes				No
TMD3	TMD	Trisomy	p.F34Fs; P.51_56ins	Yes			Yes	No
TMD4 [= AMKL4]	TMD	Trisomy	p.58_64ins; p.71_74del	Yes			Yes	Yes (PIK3C2A)
TMD5	TMD	Trisomy	p.V77Fs	Yes				No
TMD8	TMD	Trisomy	p.G31Fs	Yes				No
TMD10	TMD	Trisomy	p.E13×	Yes			Yes	No
TMD11	TMD	Trisomy	p.G7Fs	Yes				No
TMD12	TMD	Trisomy	splicing 5′ exon 2	Yes			Yes	Yes (FLT3)
TMD14	TMD	Trisomy	P.V74I (exon2 3′ splice site)	Yes			Yes	No
AMKL4 [= TMD4]	AML-M7	Trisomy	p.71_74del	Yes		Chr5 1.3-3.7, 87-122	Yes	Yes (EZH2, SMC3, DHX29, APC)
AMKL15	AML-M7	Tetrasomy	p.Y62Fs (dupl)	Yes	Chr14 tetrasomy 19.5-106.3	Chr8 113.1-119.3	Yes	Yes (DLEC1, EXT1)
AMKL15rem	Remission	Trisomy	wt	Yes			Yes	No
AMKL16	AML-M7	Trisomy	p.52_58ins	Yes	Chr7 q-arm	Chr3 60.2-60.9, 153.4-153.6, 176.2-176.8, Chr6 161.9-162.9, Chr7 p-arm	Yes	Yes (JAK1, POLE, PARK2-PACRG)
AMKL16rem	Remission	Trisomy	wt	Yes			Yes	No
AMKL20	AML-M7	Trisomy	p.P50Fs	Yes	Chr1 174-247, Chr15 62-99.5	Chr7 0-10.1		(SCNAs seen in leukemias)
AMKL21	AML-M7	Trisomy	p.F33Fs	Yes	Chr1 200-247	Chr17 0-7.7, 75.9-77.3		(SCNAs seen in leukemias)
AMKL24	AML-M7	Trisomy	p.P50Fs	Yes	Chr1 222-247			(SCNAs seen in leukemias)
AMKL25	AML-M7	Trisomy	p.T52Fs (dupl)	Yes				t(X;16)(q26;q23) (associated with multiple myeloma)

Patient	Diagnosis	Chr21	GATA1 sequence	SNP microarray	SCNA gain	SCNA loss	Exome sequence	Putative third-hit driver event?
TMD1	TMD	Trisomy	p.S12Fs	Yes				No
TMD2	TMD	Trisomy	p.50_61ins	Yes				No
TMD3	TMD	Trisomy	p.F34Fs; P.51_56ins	Yes			Yes	No
TMD4 [= AMKL4]	TMD	Trisomy	p.58_64ins; p.71_74del	Yes			Yes	Yes (PIK3C2A)
TMD5	TMD	Trisomy	p.V77Fs	Yes				No
TMD8	TMD	Trisomy	p.G31Fs	Yes				No
TMD10	TMD	Trisomy	p.E13×	Yes			Yes	No
TMD11	TMD	Trisomy	p.G7Fs	Yes				No
TMD12	TMD	Trisomy	splicing 5′ exon 2	Yes			Yes	Yes (FLT3)
TMD14	TMD	Trisomy	P.V74I (exon2 3′ splice site)	Yes			Yes	No
AMKL4 [= TMD4]	AML-M7	Trisomy	p.71_74del	Yes		Chr5 1.3-3.7, 87-122	Yes	Yes (EZH2, SMC3, DHX29, APC)
AMKL15	AML-M7	Tetrasomy	p.Y62Fs (dupl)	Yes	Chr14 tetrasomy 19.5-106.3	Chr8 113.1-119.3	Yes	Yes (DLEC1, EXT1)
AMKL15rem	Remission	Trisomy	wt	Yes			Yes	No
AMKL16	AML-M7	Trisomy	p.52_58ins	Yes	Chr7 q-arm	Chr3 60.2-60.9, 153.4-153.6, 176.2-176.8, Chr6 161.9-162.9, Chr7 p-arm	Yes	Yes (JAK1, POLE, PARK2-PACRG)
AMKL16rem	Remission	Trisomy	wt	Yes			Yes	No
AMKL20	AML-M7	Trisomy	p.P50Fs	Yes	Chr1 174-247, Chr15 62-99.5	Chr7 0-10.1		(SCNAs seen in leukemias)
AMKL21	AML-M7	Trisomy	p.F33Fs	Yes	Chr1 200-247	Chr17 0-7.7, 75.9-77.3		(SCNAs seen in leukemias)
AMKL24	AML-M7	Trisomy	p.P50Fs	Yes	Chr1 222-247			(SCNAs seen in leukemias)
AMKL25	AML-M7	Trisomy	p.T52Fs (dupl)	Yes				t(X;16)(q26;q23) (associated with multiple myeloma)

dupl, duploid; wt, wild type.