Table 1 Patient characteristics of hyperhaploid PCM cohort
Case | Site | Sex | Age (years) | Karyotype | FISH results | TP53 mutation | Time to death (months) |
---|---|---|---|---|---|---|---|
1 | Mayo | F | 39 | 33,X,add(1)(p11), +3, +del(5)(q13q35), +add(6)(p23), +add(7)(p22),add(8)(q22), +9, +11, +14, +15, +16, +18,add(20)(q11.2)[1]/46,XX[29] | Monosomies 13, 17; three copies of CCND1 | NT | 41.3 |
2 | Mayo | M | 54 | 34,X,dup(1)(q21q32), +del(3)(q12), +5, +7, +8, +9, +11, +14, +15, +18, +19, +21[1]/54~69,idemx2[cp18]/46,XY[1] | Monosomies 13, 17; 5’IGH deletion; near-tetraploid | p.Arg196* | 4 |
3 | Mayo | M | 71 | 32,X, +3, +5, +7, +9, +add(10)(q24), +15, +18, +22, +mar[1]/46,XY[19] | Monosomies 13, 14, 17 | NT | 12.9 |
4 | HHC | F | 61 | 60~62,XX, +3, +3, +6, +7, +7, +8, +9, +9, +11, +11, +11, +15, +15, +16,−18,−18, +19, +19, +20, +2mar[cp2]/46,XX[18] | Monosomies 1, 8, 13, 14, 17 | NT | 1.4 |
5 | Mayo | M | 49 | 31~32,del(X)(q13), +add(3)(p21), +add(7)(p22), +add(9)(q11), +11, +15,−18, +21, +2mar[cp14]/ 61~62,idemx2, +2mar[cp6] | Not performed | NT | 0.9 |
6 | Mayo | F | 52 | 30,X, +3, +7, +9, +11, +18, +add(19)(p13.3), +21[3]/51~54,idemx2,−3,−4,−7,−18,−add(19)(p13.3),−22, +2~3mar[cp8] | Not performed | None | 30.1 |
7 | Mayo | F | 55 | 32~34,X, +3, +5, +7, +9, +add(11)(p15),add(14)(p11.2), +18, +19, +21, +r, +1~2mar[cp7]/66,idemx2[1]/46,XX[12] | Monosomies 13, 14, 15, 17 | None | 25.8 |
8 | Mayo | F | 64 | 31,X, +3, +7, +9, +11, +add(15)(p11.1),add(16)(q12.1), +18, +19, +21[10]/46,XX[10] | Monosomies 13, 14, 15, 17; near-tetraploid | p.Phe270Ser | 11.2 |
9 | Mayo | F | 49 | 33,X, +3, +7, +9, +10, +11, +15, +18, +19, +21, +mar[3]/XX[15] | Not performed | NT | 9.9 |
10 | Mayo | M | 56 | 31,X,add(1)(q32), +add(3)(q21), +add(5)(q11.2), +7, +9, +11, +15, +18, +del(22)(q13)[19]/46,XY[1] | Not performed | NT | 4.2 |
11 | Mayo | M | 50 | 32,X, +3, +5, +7, +9, +11, +15,der(16)t(16;17)(q13;q11.2), +18, +19, +21[5]/46,XY[15] | Monosomies 13, 14, 17 | None | 4.4 |
12 | Mayo | F | 72 | 33,X, +1, +2, +6, +7, +11, +14, +18, +19, +21, +22[6]/46,XX[7] | Not performed | p.Arg156Pro | 75.5 |
13 | Mayo | M | 50 | 31~33,XY, +3, +5, +7, +add(9)(p13), +11, +15, +18, +19, +mar[cp7]/46,XY[3] | Monosomies 13, 14, 17; trisomy 9 | NT | 6.8 |
14 | Mayo | M | 44 | 34,X, +3, +5, +add(7p22), +9, +10, +11, +15, +18, +19, +add(21)(q22), +mar[6]/46,XY[14] | Monosomies 13, 14, 17 | None | 45.8 |
15 | Mayo | M | 43 | 34,X, +3, +5, +7, +8, +9, +9, +11, +15, +18, +19, +21[2]/46,XY[28] | Monosomies 13, 14, 17 | p.Asp48Alafs*5 | NA |
16 | Mayo | F | 80 | 32,X, +3, +5, +7, +9, +11, +15, +add(15)(p11.2), +19, +21[5]/46,XX[12] | Monosomies 13, 14, 17 | p.Pro250Thr | 18 |
17 | Mayo | F | 53 | 33,X,der(1;21)(q10;q10), +3, +5, +7, +9, +11, +add(14)(q32), +15, +18, +19, +21[4]/46,XX[16] | Monosomies 4, 6, 13, 16, 17, 20; IGH/MYC fusion | p.Thr253Pro | 12.4 |
18 | Mayo | F | 71 | 30,X, +3, +5, +7, +9, +add(11)(q25), +15, +add(19)(q13.3),−21, +1~2mar[cp3]/46,XX[20] | Monosomies 8, 13, 17, 20 | p.Tyr220Metfs*27 | 22.4 |
19 | HHC | F | 54 | 32,X, +der(3)t(2;3)(q33;q29),der(4)inv(4)(p16q13)ins(4;?)(p16;?), +5, +7, +8, +9, +11, +15, +19, +21[3]/46,XX[17] | Monosomies 1, 4, 13, 14, 16, 17 | NT | NA |
20 | HHC | M | 53 | 34,X,del(1)(q11),ins(1;?)(q21;?),add(1)(q32), +der(3)add(3)(p23)add(3)(q22), +add(3)(q22), +5, +7, +8, +9, +11, +add(11)(q23), +14, +add(14)(p11.1), +15, +18, +19, +21[cp20]/46,XY[1] | Not performed | NT | NA |
21 | HHC | M | 58 | 30,X, +2, +3, +8, +11, +15, +18, +19,−22, +mar[4]/46,XY[3] | Monosomies 1, 4, 13, 14, 16, 17 | NT | NA |
22 | HHC | M | 50 | 33,X, +3, +5, +7, +9, +10, +11, +15, +18, +19, +21[5]/46,XY[15] | Monosomies 1, 4, 13, 14, 16, 17 | NT | NA |