Patient cytogenetics and FISH before and after IST
. | Cytogenetics . | . | Trisomy 8 FISH . | . | . | FISH 5q- or del 7 . | . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Before treatment . | 6 mo after treatment . | Before treatment, % . | 6 mo after treatment, % . | Clinical response . | Before treatment (%) . | 6 mo after treatment (%) . | Vβ subfamily expansion after treatment . | BM dysphasis aft treatment . | ||||
| Trisomy 8 | |||||||||||||
| 1* | 46,XY (20 of 20) | 47,XY, +8 (9 of 20) | 35 | 65 | R | nl | nl | ↓ | No | ||||
| 3* | 46XX (22 of 22) | 47,XX, +8 (4 of 20) | 4 | 87 | R | ND | ND | ↓ | No | ||||
| 5* | 46,XY (34 of 34) | 47,XY, +8 (31 of 31) | 0 | 45 | R | ND | ND | ↓ | No | ||||
| 8 | 46,XX (20 of 20) | 47,XX, +8 (5 of 20) | 0 | 60 | R | nl | nl | ↓ | Yes | ||||
| 9 | 46,XX (20 of 20) | 47,XX, +8 (6 of 20) | 10 | 30 | NR | nl | nl | ↓ | Yes | ||||
| 14 | 46,XY (20 of 20) | 47,XY, +8 (4 of 20) | 5 | 18 | NR | ND | ND | ↓ | |||||
| 15 | 47,XY, +8 (20 of 20) | ND | 25 | 78 | R | ND | ND | ↓ | No | ||||
| 16 | 46,XX (20 of 20) | 47,XX, +8 (6 of 20) | 16 | 56 | R | ND | ND | ↓ | No | ||||
| 18 | 46,XX (20 of 20) | 47,XX, +8 (14 of 20) | 8 | 65 | R | ND | ND | ↓ | Yes | ||||
| 19 | 47,XY, +8 (1 of 8) | 46,XY (5 of 5) | 3 | 12 | NR | nl | nl | ND | Yes | ||||
| 21 | 46,XY (20 of 20) | 47,XY, +8 (6 of 20) | 0 | 65 | R | nl | nl | ↓ | Yes | ||||
| 22 | 47,XY, +8 (7 of 20) | 47,XX, +8 (20 of 20) | 23 | 32 | R | ND | ND | ND | No | ||||
| 26 | 47,XY, +8 (1 of 20) | 47,XY, +8 (19 of 20) | 17 | 83 | R | nl | nl | ↓ | Yes | ||||
| 28* | 46,XY (20 of 20) | 47,XY, +8 (1 of 34) | 12 | 35 | R | ND | ND | ND | No | ||||
| 29 | 47,XX, +8 (3 of 20) | ND | 22 | 55 | R | ND | ND | ↓ | Yes | ||||
| 30 | 46,XX (20 of 20) | 47,XX, +8 (5 of 21) | 2 | 57 | R | ND | ND | ND | Yes | ||||
| 32 | 46XY, +8 (4 of 20) | 46XY, +8 (15 of 20) | 15 | 70 | R | ND | ND | ↓ | Yes | ||||
| 33 | 47,XX, +8 (2 of 20) | 47,XX, +8 (10 of 20) | 10 | 58 | R | nl | nl | ↓ | Megakaryocyte atypia | ||||
| 34 | 47,XX, +8 (2 of 20) | 47 XY, +8 (18 of 20) | 12 | 100 | R | nl | nl | ND | No | ||||
| Complex cytogenetics | |||||||||||||
| 7 | 47,XY, +8 (6 of 20) 47,XY 5q- (1 of 20) | 47,XY, +8 (3 of 20), 5q- (4 of 20) | 36 | 69 | NR | 5q- (13) | 5q- (16) | ↓ | Yes | ||||
| 10 | 46,XY (20 of 20) 20q- (1 of 20) | 47,XY, +8 (2 of 20) | 6 | 37 | NR | 20q- (10) | 20q- (12) | ↓ | No | ||||
| 22 | 46,XX (10 of 20) 47,XX 5q- (4 of 20) | 47,XX, +8 (3 of 20) | 20 | 25 | NR | 5q- (57) | 5q- (60) | ↓ | Yes | ||||
| 23 | 47,XX, +8 (2 of 20) 45,XX, -7 (1 of 20) | 46,XX, +8.46,XX, -7 | 17 | 34 | NR | del 7 (21) | del 7 (24) | ↓ | Yes | ||||
| 24 | 47,XY, +8 (4 of 20) 46,XY, -7 (1 of 20) | 47,XY, +8 (15 of 20) 45,XY, -7 (2 of 20) | 38 | 86 | NRdel 7 (24) | del 7 (20) | ↓ | Yes | |||||
| Monosomy 7 | |||||||||||||
| 38 | 45,XY, -7 (6 of 20) | 45,XY, -7 (5 of 20) | 0 | 0 | NR | (15) | (10) | NE | Yes | ||||
| 39 | 45,XY, -7 (15 of 20) | 45,XY, -7 (3 of 20) | 0 | 0 | R | (67) | (10) | ↓ | No | ||||
| 40 | 45,XY, -7 (5 of 20) | 45,XY, -7 (7 of 20) | ND | ND | NR | (24) | (28) | NE | Yes | ||||
| 41 | 45,XY, -7 (2 of 20) | 45,XY, -7 (1 of 20) | ND | ND | NR | (10) | (9) | NE | Yes | ||||
| 43 | 46,XY (20 of 20) | 45,XY, -7 (9 of 24) | ND | ND | R | (12) | (22) | NE | Yes | ||||
| 45 | 45,XY, -7 (4 of 20) | 45,XY, -7 (6 of 20) | ND | ND | NR | (15) | (7) | NE | Yes | ||||
| 48 | 46,XY (20 of 20) | 45,XY, -7 (2 of 20) | nl | nl | NR | (8) | (10) | ND | Yes | ||||
| 5q- | |||||||||||||
| 49 | 46XY, 5q- (15 of 20) | 46XY, 5q- (12 of 20) | nl | nl | NR | (48) | (50) | NE | Yes | ||||
| 50 | 46XX, 5q- (12 of 20) | 46XX, 5q- (10 of 20) | nl | nl | NR | (38) | (30) | ND | Yes | ||||
. | Cytogenetics . | . | Trisomy 8 FISH . | . | . | FISH 5q- or del 7 . | . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Before treatment . | 6 mo after treatment . | Before treatment, % . | 6 mo after treatment, % . | Clinical response . | Before treatment (%) . | 6 mo after treatment (%) . | Vβ subfamily expansion after treatment . | BM dysphasis aft treatment . | ||||
| Trisomy 8 | |||||||||||||
| 1* | 46,XY (20 of 20) | 47,XY, +8 (9 of 20) | 35 | 65 | R | nl | nl | ↓ | No | ||||
| 3* | 46XX (22 of 22) | 47,XX, +8 (4 of 20) | 4 | 87 | R | ND | ND | ↓ | No | ||||
| 5* | 46,XY (34 of 34) | 47,XY, +8 (31 of 31) | 0 | 45 | R | ND | ND | ↓ | No | ||||
| 8 | 46,XX (20 of 20) | 47,XX, +8 (5 of 20) | 0 | 60 | R | nl | nl | ↓ | Yes | ||||
| 9 | 46,XX (20 of 20) | 47,XX, +8 (6 of 20) | 10 | 30 | NR | nl | nl | ↓ | Yes | ||||
| 14 | 46,XY (20 of 20) | 47,XY, +8 (4 of 20) | 5 | 18 | NR | ND | ND | ↓ | |||||
| 15 | 47,XY, +8 (20 of 20) | ND | 25 | 78 | R | ND | ND | ↓ | No | ||||
| 16 | 46,XX (20 of 20) | 47,XX, +8 (6 of 20) | 16 | 56 | R | ND | ND | ↓ | No | ||||
| 18 | 46,XX (20 of 20) | 47,XX, +8 (14 of 20) | 8 | 65 | R | ND | ND | ↓ | Yes | ||||
| 19 | 47,XY, +8 (1 of 8) | 46,XY (5 of 5) | 3 | 12 | NR | nl | nl | ND | Yes | ||||
| 21 | 46,XY (20 of 20) | 47,XY, +8 (6 of 20) | 0 | 65 | R | nl | nl | ↓ | Yes | ||||
| 22 | 47,XY, +8 (7 of 20) | 47,XX, +8 (20 of 20) | 23 | 32 | R | ND | ND | ND | No | ||||
| 26 | 47,XY, +8 (1 of 20) | 47,XY, +8 (19 of 20) | 17 | 83 | R | nl | nl | ↓ | Yes | ||||
| 28* | 46,XY (20 of 20) | 47,XY, +8 (1 of 34) | 12 | 35 | R | ND | ND | ND | No | ||||
| 29 | 47,XX, +8 (3 of 20) | ND | 22 | 55 | R | ND | ND | ↓ | Yes | ||||
| 30 | 46,XX (20 of 20) | 47,XX, +8 (5 of 21) | 2 | 57 | R | ND | ND | ND | Yes | ||||
| 32 | 46XY, +8 (4 of 20) | 46XY, +8 (15 of 20) | 15 | 70 | R | ND | ND | ↓ | Yes | ||||
| 33 | 47,XX, +8 (2 of 20) | 47,XX, +8 (10 of 20) | 10 | 58 | R | nl | nl | ↓ | Megakaryocyte atypia | ||||
| 34 | 47,XX, +8 (2 of 20) | 47 XY, +8 (18 of 20) | 12 | 100 | R | nl | nl | ND | No | ||||
| Complex cytogenetics | |||||||||||||
| 7 | 47,XY, +8 (6 of 20) 47,XY 5q- (1 of 20) | 47,XY, +8 (3 of 20), 5q- (4 of 20) | 36 | 69 | NR | 5q- (13) | 5q- (16) | ↓ | Yes | ||||
| 10 | 46,XY (20 of 20) 20q- (1 of 20) | 47,XY, +8 (2 of 20) | 6 | 37 | NR | 20q- (10) | 20q- (12) | ↓ | No | ||||
| 22 | 46,XX (10 of 20) 47,XX 5q- (4 of 20) | 47,XX, +8 (3 of 20) | 20 | 25 | NR | 5q- (57) | 5q- (60) | ↓ | Yes | ||||
| 23 | 47,XX, +8 (2 of 20) 45,XX, -7 (1 of 20) | 46,XX, +8.46,XX, -7 | 17 | 34 | NR | del 7 (21) | del 7 (24) | ↓ | Yes | ||||
| 24 | 47,XY, +8 (4 of 20) 46,XY, -7 (1 of 20) | 47,XY, +8 (15 of 20) 45,XY, -7 (2 of 20) | 38 | 86 | NRdel 7 (24) | del 7 (20) | ↓ | Yes | |||||
| Monosomy 7 | |||||||||||||
| 38 | 45,XY, -7 (6 of 20) | 45,XY, -7 (5 of 20) | 0 | 0 | NR | (15) | (10) | NE | Yes | ||||
| 39 | 45,XY, -7 (15 of 20) | 45,XY, -7 (3 of 20) | 0 | 0 | R | (67) | (10) | ↓ | No | ||||
| 40 | 45,XY, -7 (5 of 20) | 45,XY, -7 (7 of 20) | ND | ND | NR | (24) | (28) | NE | Yes | ||||
| 41 | 45,XY, -7 (2 of 20) | 45,XY, -7 (1 of 20) | ND | ND | NR | (10) | (9) | NE | Yes | ||||
| 43 | 46,XY (20 of 20) | 45,XY, -7 (9 of 24) | ND | ND | R | (12) | (22) | NE | Yes | ||||
| 45 | 45,XY, -7 (4 of 20) | 45,XY, -7 (6 of 20) | ND | ND | NR | (15) | (7) | NE | Yes | ||||
| 48 | 46,XY (20 of 20) | 45,XY, -7 (2 of 20) | nl | nl | NR | (8) | (10) | ND | Yes | ||||
| 5q- | |||||||||||||
| 49 | 46XY, 5q- (15 of 20) | 46XY, 5q- (12 of 20) | nl | nl | NR | (48) | (50) | NE | Yes | ||||
| 50 | 46XX, 5q- (12 of 20) | 46XX, 5q- (10 of 20) | nl | nl | NR | (38) | (30) | ND | Yes | ||||
Clin resp, clinical response; R, responder; nl, normal; ND, not done; NR, nonresponder; NE, not expanded.
Indicates initial diagnosis of AA before immunosuppression with relapse and retreatment after development of abnormal cytogenetics. Mean values derived from data obtained by 2 separate observers on at least 3 separate slides. The change in trisomy 8 percentage observed 6 months after treatment was statistically significant (P < .01). Patients 7 and 24 had cytogenetic abnormalities other than trisomy 8. Number of chromosomes with karyotype indicated in parentheses.