Table 1.
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) |