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. 2022 Nov 14;37(2):326–338. doi: 10.1038/s41375-022-01758-z

Table 1.

Clinical information for relapsed/refractory CLL patient samples.

Patient No. Sex Age (yr) Prior Therapies Cytogenetic Features Identified Mutations of Interest TP53 Mutant VAF (%)
1 Male 49 10 46,XY,del(11)(q22q23)[cp2]/46,sl,t(14;22)(p12;q11.2)[6, three w/nonclonal abnormalities]/46,XY,der(11)t(11;11)(p15;q12)del(11)(q22q23),der(11)t(11;11)(p15;q12)[8]/46,sdl2,del(4)(q31),add(9)(q22),-der(11)t(11;11),+add(11)(q22)[1]/46,XY[3]

C481S mutation in BTK

P2514fs mutation in NOTCH

F1142L mutation in PLCG2

I195N mutation in TP53

19.5 (I195N)
2 Female 54 10 45,XX,der(1)t(1;8)(q32;q13),del(11)(q22q23),add(12)(p13),−13[3,one w/nonclonal abnormalities]/46,XX[17]

C481S & T474I mutations in BTK

C730 mutation in ASXL1

L603fs mutation in BIRC3

E571K mutation in XPO1

6.4
3 Female 49 7 45,XX,der(1)t(1;8)(q32;q13),del(11)(q22q23),add(12)(p13),−13[3,one w/nonclonal abnormalities]/46,XX[17]

C481S mutation in BTK

D832 mutation in ASXL1

V216M & R209fs mutations in TP53

78.4 (V216M)

22.1 (R209fs)

4 Female 43 5 42–45,XY,−4,−5,−11,psu dic(15;11)(q26;p11.2),add(17)(p11.2),add(19)(q13.4),+mar1,+mar2,+mar3[cp6]/44–46,sl,der(1)add(1)(p36.1)add(1)(q21),der(6)t(1;6)(q21;q21),−9,-psu dic(15;11),+15,+11,-add(19),+19,+r,-mar1,-mar3,+mar4,+mar5[cp5]/46,XX[7]/nonclonal[2]

D855fs mutation in ASXL1

T663I mutation in SF3B1

R415P mutation in ZRSR2

S215I mutation in TP53

91.1 (S215I)
5 Male 53 7

45,XY,der(3)t(3;13)(p25;q14.3),del(11)(q13q23),t(11;12)(q23;q15),add(13)(q12),dic(15;17)(q11.2;p11.2)[4, one is 4n]/45,idem,−8,+der(?)(22qter->22q11.2::?::8q21->8qter)[6,one w/nonclonal abnormalities]/44,idem,−8,add(10)(p13),+mar[1]/

44,idem,−8,−13,+add(13)(p11.2),add(16)(q12)[2]/

44,idem,add(2)(q37),add(5)(p13),del(6)(q21q25),−8,-del(11),+der(11)add(11)(p15)del(11)(q13q23)[10, 3 w/nonclonal abnormalities]/

45,X,-Y[8]/

46,XY[8]/nonclonal[1]

Q2444 mutation in NOTCH1

Splice Donor Site Mutation in TP53

90.0 (c.782 + 2 T > A)
6 Male 43 20

Stimulated: 46,XY,add(4)(p14),del(11)(q22q23)[14,one w/nonclonal abnormalities]/46,XY[5]/nonclonal[1]

Unstimulated: 46,XY,add(4)(p14),del(11)(q22q23)[2] (2019)

C481S mutation in BTK

E571A mutation in XPO1

V600E mutation in BRAF

K700E mutation in SF3B1

No Mutation in TP53
7 Male 52 10 46,XY,del(11)(q13q23)[17,one w/nonclonal abnormalities]/45,sl,del(X)(q22q26),−1,der(3)t(1;3)(p13;p25),t(4;18)(p15;p11.2),dic(8;17)(p11.2;p11.2),add(11)(p15),del(13)(q12q14),+mar[3]

C481S mutation in BTK

E1006 mutation in ASXL1

E433 mutation in BIRC3

G469A mutation in BRAF

Y266S mutation in PTPRD

I195T mutation in TP53

16.1 (I195T)
8 Female 51 5 43–53,XX, + X, + add(3)(p11.2),+4,+5,−6,del(6)(q21q27),add(7)(p13),add(7)(q36),dic(9;15)(p11.2;p11.2),+11,+add(12)(q13),−16,−17,add(19)(q13.3),del(21)(q22),add(22)(q13),+1–8mars[cp20] (2021). 47,XX, + 12[cp2]/47,sl,+1,dic(1;17)(p12;p11.2),add(2)(p13),add(5)(q13),add(9)(p13),del(9)(p22),add(11)(q23),add(12)(q24),add(13)(q34)[1]/47,sdl,add(14)(q32)[7, one is 4n w/ nonclonal]/46,XX[8]/nonclonal[2] (2020)

P2514fs mutation in NOTCH1

E76G mutation in PTPN11

L1155I mutation in ASXL1

D281G mutation in TP53

85.5 (D281G)