Table 1 Clinical, hematological, and molecular-cytogenetic features of 12 T-ALL cases with chromothripsis.
Case | S/A | Karyotype | NOTCH1/FBXW7 | Primary event | Additional events | Chromothriptic events | Epigenetic alterations |
|---|---|---|---|---|---|---|---|
1 | F/27 | n.a. | NOTCH1 c.5161 G > A p.V1721M c.7470 C > A p.Y2490* | SET-NUP214 | TCF7 del SEC63 del WT1 del ATM del TP53 del RB1 del | arr(5q)cth | |
2 | M/19 | 46,XY[15] | NOTCH1 c.7488_7496delCACCCCCAGinsGGTTAGTGCCCACAA p.N2496_S2499delinsKVSAHN | SET-NUP214 | CASP8AP2-GRIK2-SEC63 del WT1 del ETV6-CDKN1B del RB1 del TP53 del NF1-SUZ12 del | arr(1,17)cth | SUZ12 del |
3 | M/30 | 46,XY,del(4)(q21q28),del(5)(q14q34),del(11)(p15p12),del(12)(p13p12)[3] | wild type | SET-NUP214 | TCF7 del WT1 del ETV6-CDKN1B del NF1-SUZ12 del | arr(16)cth | EZH2 mut SUZ12 del |
4 | M/20 | 46,XY,?del(6)(p21p25)[15] | wild type | SQSTM1-NUP214 | Terminal 5q del CDKN2AB del WT1 del NF1-SUZ12 del | arr(13q)cth | SUZ12 del |
5 | M/32 | n.a. | NOTCH1 c.4799 T > A p.L1600Q c.6963–6966dupCCAA p.Y2323Pfs*32 | TRB-HOXA | TCF7 del CASP8AP2 del CDKN2AB del trisomy 8 | arr(6,7,9)cth | |
6 | F/19 | 45–47,XX,add(1)(p36),add(3)(p24),r(6)(?),inv(7)(p15q34),+20,+21[cp8] 46,XX[1] | FBXW7 c.1322 G > A (p.R441Q) | TRB-HOXA | GRIK2-SEC63-FYN del MYB gain PIM1 translocation CDKN2AB del trisomy 20 trisomy 21 | arr(6,8)cth | EZH2 mut |
7 | M/34 | 47–48,XY, + Y,dup(1)(p31p35),-7,+mar1,+mar2,+ring[cp10] | NOTCH1 c.4746delGinsCGCT p.Pro1582_Glu1583insAla c.7328_7329insCT p.Gln2444Cysfs*34 | TRB-HOXA | LCK-TAL1-SIL-JAK1 gain | arr(7)cth | EZH2 mut |
8 | M/22 | 46,XY[16] | wild type | Mir181-HOXA | TCF7 del ETV6-CDKN1B del RB1-DLEU1-DLEU7 del TP53 del NF1-SUZ12 del | arr(12,17,18,20)cth | SUZ12 del |
9 | M/37 | n.a. | wild type | PICALM-MLLT10 | TCF7 del CASP8AP2-GRIK2 del MYC gain CDKN2AB del ATM del | arr(2,6)cth | |
10 | M/24 | n.a. | wild type | Undetermined | GRIK2-SEC63-FYN del TRB del CDKN2AB del ETV6-CDKN1B del | arr(7)cth | |
11 | M/23 | 46,XY,t(1;2)(p34;p21),add(5p),add(Xp),-7,+mar[8] 46,XY[2] | NOTCH1 c.7017insT p.A2339fs*15 | Undetermined | IKZF1 del ETV6-CDKN1B del RB1-DLEU1-DLEU7 del NF1-SUZ12 del | arr(1p)cth | ASXL1 mut SUZ12 del |
12 | F/62 | n.a. | NOTCH1 c.4740insTGGCCG p.M1580insWP | undetermined | TCF7 del CASP8AP2-GRIK2-SEC63-FYN del ETV6-CDKN1B del RB1-D13S319 del NF1-SUZ12 del | arr(1p)cth | DNMT3A mut SUZ12 del |
