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Table 1. Demographic, clinical and genetic characteristics of ZEB2mut-positive patients.
Case ID Gender
Age WBC Risk ALL Outcome Follow-up (years) (x109/L) (Dx) subtype (years)
ZEB2mut
H1038R
H1038R H1038R H1038R H1038R
H1038R
H1038R H1038R H1038R H1038R H1038R H1038R H1038R H1038R
H1038R H1038R Q1072R
Q1072R Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072R
Q1072K
Q1072K
Additional genetic findings at Dx
ZEB2-TEX41 (of)e
ZEB2-GTDC1 (of)e TP53 P278L, NRAS Y64D PTPN11 G60V PAX5-PML, P2RY8-CRLF2, CBFA2T3-SLC7A5, JAK1 V658I
NRAS Q61K
NRAS G12D n.an. n.an.
Additional genetic findings at REL
n.an.
n.an.
n.an.
n.an. PAX5-PML, P2RY8-CRLF2, CBFA2T3-SLC7A5, NT5C2 K25E CSDE1-ST7L, KRAS A146V
_ IGH-CEBPA KRAS G12V
835 F 76 MR
206 WB35 WB23 1768
H46
B 207 KI63 HV62 GI9 U 131 FB62 865 1883
1098 RG31 961
E46 S29
B65
B80
B-other CCR 9.2
B-other REL-BM 5.3 B-other CCR 4.3 B-other Died 0.7 B-other REL-BM 1.3
B-other REL-BM 3.8
6 MR
22 MR B-othera
111 HR DUX4ra 15 SR B-other 9 MR B-other 137 MR B-other 4 MR B-other 7 HR B-other
20 MR DUX4r 20 HR ZNF384rb
3 HR iAMP21
3 SR B-other 30 MR B-other
4 SR B-other
8 MR B-other
41 MR B-other 35 SR B-other 19 SR B-other
M 68 SR
F 15 F 9 M 1
F 12
M 14 F 20 F 13 F 9 M 16
M 7 M 17 M 12
F 14 M 6 M 12
F 3 F 3
F 4
F 3
41 HR 3 HR 3 SR
4 HR
B-other REL-BM+EM 2.5 REL-BM 0.9
REL-BM 3.3 CCR 6.1 CCR 6.8
REL-BM 2.7 REL-BM 3.8 REL-BM 2.1
REL-BM 3.4 CCR 6.0 REL-BM 2.5
CCR 3.6 CCR 6.3
CCR 1.7
CCR 3.3
CCR 5.1 CCR 6.2 CCR 6.0
IGH-CEBPA n.an.
HV70
KI16
1154
2058
RG51
2134
MA5
B 150
1114
KI15 F 9
5 SR 8 HR 10 MR 3 SR 40 MR 16 MR 6 MR 2 MR
B-other REL-BM+CNS 3.2 TCF3/HLF Died 0.0 DUX4r REL-EMd 2.6 B-other REL-CNS 2.0 B-other REL-BM 1.8 DUX4r REL-EMc 2.1
DUX4r CCR 10.2 DUX4r CCR 9.0
F 2 F 4 M 2 M 3 F 9 F 4 F 5 F 5 M 17
FLT3 D839G, L576R, N676K _
_
_
_
_ PAX5-BCAS4, KMT2D R5027*, SETD2 I2482fs PAX5 E105* P2RY8-CRLF2, PAX5 V319_P320fs, PAX5 A111T P2RY8-CRLF2,
JAK2 D873N, TP53 E258G, ZEB2 A1035Gf P2RY8-CRLF2, CRLF2 F232C, CRLF2 V244M P2RY8-CRLF2 P2RY8-CRLF2 P2RY8-CRLF2 P2RY8-CRLF2 NRAS G13D IGH-MYC ATG4D-PDE4A
_
_
_
_
n.an.
_
n.an. NT5C2 R238W, NT5C2 R367Q n.an. n.an. n.an.
n.an. n.an.
n.an.
n.an.
n.an. n.an. n.an. SETD2 Y1666C n.an.
_ n.an. _ n.an. n.an. n.an.
1323 F 16
WBC: white blood cell count; SR/MR/HR: standard/medium/high risk; CCR: continuous complete remission; r: rearrangement; BM: bone marrow; EM: extramedullary; CNS: central nervous system; n.an.: not analyzed; Dx: diagnosis; REL: relapse; of: out-of-frame. aSubtype assigned using RNA sequencing data from relapse; bEP300-ZNF384; cisolat- ed testicular relapse; disolated relapse in uterus; ethe rearranged allele carries a H1038R mutation; faffects the second ZEB2 allele.
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