Table 2. Genotyping analysis of FC... | American Society of Hematology

Table 2.

Genotyping analysis of FC sorted BM and PB subpopulations from 9 patients

		Sorted populations
	Genetic alterations	VAF in abnormal T cells	VAF in abnormal plasma cells
Patient 2†	DNMT3A p.R736C	0.478	0
	TET2 p.Q810*	0.463	0
	TET2 p.Y1128*	0.458	0
	IDH2 p.R172K	0.406	0
	RHOA p.G17V	0.459	0
	ATR p.D1409N	0.206	0
	KMT2B p.Q757*	0.248	0
	BRCA2 p.A2306S	0	0.478
	BTG1 p.K29*	0	0.484
	EPHA5 p.G1033E	0	0.229
	KMT2D p.H1525Pfs*37	0	0.248
	SETD5 p.Y987F	0	0.345
Patient 3†‡		VAF in abnormal T cells	VAF in monocytes
	TET2 p.Y592fs	0.505	0.005
	DNMT3A exon11 splicing variant (c.1279+1G>A)	0.473	0.003
	IDH2 p.R172K	0.489	0.002
	RHOA p.G17V	0.479	0.001
Patient 4†‡		VAF in abnormal T cells	VAF in monocytes
	TET2 p.Y1337*	0.550	0
	DNMT3A p.W795C	0.488	0.065
	IDH2 p.R172G	0	0
	RHOA p.G17V	0.491	0
Patient 10		VAF in abnormal T cells	VAF in abnormal CD34⁺ myeloid blasts	VAF in monocytes
	TET2 p.C1289Y	0.506	0.481	0.478
	TET2 p.L1899Sfs*9	0.446	0.32	0.542
	DNMT3A p.R771*	0.51	0.4	0.514
	DNMT3A p.C861Y	0	0.406	0.359
	RUNX1 p.A329Sfs*271	0	0.621	0.423
	ARID1B p.S914N	0.349	0	0
	DDX3X p.V526A	0.234	0	0
	NFE2 p.T318A	0.341	0	0
	ROBO1 p.G904R	0.516	0	0
Patient 11		VAF in abnormal CD34⁺ myeloid blasts	VAF in abnormal CD117⁺/CD34⁻ blasts	VAF in normal lymphocytes
	TET2 p.C484fs	0.128	0.394	0.148
	TET2 p.L757fs	0.196	0.463	0.139
	DNMT3A p.I471*	0.180	0	0.009
	EPHA5 p.D136N	0	0	0
	WT1 p.S189*	0	0.371	0
	WT1 p.S71Lfs*128	0	0.029	0
Patient 13		VAF in abnormal T cells	VAF in normal myeloid cells	VAF in normal B cells
	DNMT3A p.K455*	0.485	0.375	0.206
	TET2 p.G641W	0.465	0.085	0.196
	TET2 p.S631*	0.477	0.084	0.198
	TET2 p.Q1030*	0	0.250	0
	SF3B1 p.K700E	0	0.205	0
	TET2 p.V1232Gfs*21	0	0	0.11
	TET3 p.C695Y	0.502	0	0
	TET3 p.C693G	0.475	0	0
Patient 14†‡		VAF in monocytes
	TET2 p.C973fs	0
	TET2 p.R1216*	0
	IDH2 p.R172S	0
	RHOA p.G17V	0
Patient 15†‡		VAF in monocytes
	TET2 p.570fs	0.22
	IDH2 p.R172G	0
	RHOA p.G17V	0
Patient 20		VAF in abnormal T cells	VAF in granulocytes
	TET2 p.R1440Tfs*38	0.689	0.327
	TET2 p.S794*	0.045	0.294
	TET2 p.W1003*	0.011	0.079
	TET2 p.H850Qfs*19	0.005	0.038
	DNMT3A p.R736H	0.008	0.064

		Sorted populations
	Genetic alterations	VAF in abnormal T cells	VAF in abnormal plasma cells
Patient 2†	DNMT3A p.R736C	0.478	0
	TET2 p.Q810*	0.463	0
	TET2 p.Y1128*	0.458	0
	IDH2 p.R172K	0.406	0
	RHOA p.G17V	0.459	0
	ATR p.D1409N	0.206	0
	KMT2B p.Q757*	0.248	0
	BRCA2 p.A2306S	0	0.478
	BTG1 p.K29*	0	0.484
	EPHA5 p.G1033E	0	0.229
	KMT2D p.H1525Pfs*37	0	0.248
	SETD5 p.Y987F	0	0.345
Patient 3†‡		VAF in abnormal T cells	VAF in monocytes
	TET2 p.Y592fs	0.505	0.005
	DNMT3A exon11 splicing variant (c.1279+1G>A)	0.473	0.003
	IDH2 p.R172K	0.489	0.002
	RHOA p.G17V	0.479	0.001
Patient 4†‡		VAF in abnormal T cells	VAF in monocytes
	TET2 p.Y1337*	0.550	0
	DNMT3A p.W795C	0.488	0.065
	IDH2 p.R172G	0	0
	RHOA p.G17V	0.491	0
Patient 10		VAF in abnormal T cells	VAF in abnormal CD34⁺ myeloid blasts	VAF in monocytes
	TET2 p.C1289Y	0.506	0.481	0.478
	TET2 p.L1899Sfs*9	0.446	0.32	0.542
	DNMT3A p.R771*	0.51	0.4	0.514
	DNMT3A p.C861Y	0	0.406	0.359
	RUNX1 p.A329Sfs*271	0	0.621	0.423
	ARID1B p.S914N	0.349	0	0
	DDX3X p.V526A	0.234	0	0
	NFE2 p.T318A	0.341	0	0
	ROBO1 p.G904R	0.516	0	0
Patient 11		VAF in abnormal CD34⁺ myeloid blasts	VAF in abnormal CD117⁺/CD34⁻ blasts	VAF in normal lymphocytes
	TET2 p.C484fs	0.128	0.394	0.148
	TET2 p.L757fs	0.196	0.463	0.139
	DNMT3A p.I471*	0.180	0	0.009
	EPHA5 p.D136N	0	0	0
	WT1 p.S189*	0	0.371	0
	WT1 p.S71Lfs*128	0	0.029	0
Patient 13		VAF in abnormal T cells	VAF in normal myeloid cells	VAF in normal B cells
	DNMT3A p.K455*	0.485	0.375	0.206
	TET2 p.G641W	0.465	0.085	0.196
	TET2 p.S631*	0.477	0.084	0.198
	TET2 p.Q1030*	0	0.250	0
	SF3B1 p.K700E	0	0.205	0
	TET2 p.V1232Gfs*21	0	0	0.11
	TET3 p.C695Y	0.502	0	0
	TET3 p.C693G	0.475	0	0
Patient 14†‡		VAF in monocytes
	TET2 p.C973fs	0
	TET2 p.R1216*	0
	IDH2 p.R172S	0
	RHOA p.G17V	0
Patient 15†‡		VAF in monocytes
	TET2 p.570fs	0.22
	IDH2 p.R172G	0
	RHOA p.G17V	0
Patient 20		VAF in abnormal T cells	VAF in granulocytes
	TET2 p.R1440Tfs*38	0.689	0.327
	TET2 p.S794*	0.045	0.294
	TET2 p.W1003*	0.011	0.079
	TET2 p.H850Qfs*19	0.005	0.038
	DNMT3A p.R736H	0.008	0.064

stop codon mutation.

†

Flow-sorted BM or PB samples that are different from the BM samples described in Table 1 and supplemental Figure 1 and Table 2. The BM sample from patient 2 reported in this table was obtained at the time of initial AITL diagnosis while the BM sample reported in Table 1 and supplemental Figure 1 and Table 2 was obtained ∼2 years later at the time of MDS diagnosis. The sample reported in this table from patient 3 is a PB sample obtained at the time of initial AITL diagnosis, while the BM sample reported in Table 1 and supplemental Figure 1 and Table 2 was obtained <1 year later at the time of AITL relapse. The sample reported in this table from patient 4 is a BM sample obtained at the time of AITL relapse, while the BM sample reported in Table 1 and supplemental Figure 1 and Table 2 was obtained ∼2.5 years earlier after completion of the first round of AITL-directed chemotherapy. The sample reported in this table from patient 14 is a PB sample obtained at the time of first AITL relapse, while the BM sample reported in Table 1 and supplemental Figure 1 and Table 2 was obtained <1 year later at the time of second AITL relapse. The sample reported in this table from patient 15 is a PB sample obtained during routine surveillance, while the BM sample reported in Table 1 and supplemental Figure 1 and Table 2 was obtained ∼3 years prior at initial AITL diagnosis.

‡

Samples that were genotyped using droplet digital polymerase chain reaction.

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