Table 1.
Demographic features of patients with B-ALL and ZNF384 rearrangements stratified by partner genes.
| Total n (%) | EP300 n (%) | TCF3 n (%) | TAF15 n (%) | CREBBP n (%) | Othera n (%) | Missingb n (%) | p value | |
|---|---|---|---|---|---|---|---|---|
| Total, n (%) | 218 (100) | 83 | 60 | 17 | 15 | 18 | 25 | |
| Sex, n(%) | ||||||||
| Male | 104 (50) | 36 (47) | 28 (47) | 11 (65) | 9 (64) | 11 (65) | 9 (36) | 0.381 |
| Female | 104 (50) | 40 (53) | 31 (53) | 6 (35) | 5 (36) | 6 (35) | 16 (64) | |
| Unknown/Missing | 10 | 7 | 1 | 0 | 1 | 1 | 0 | |
| Age (years) | ||||||||
| Median | 9.00 | 11.00 | 5.00 | 8.00 | 6.00 | 7.00 | 12.00 | |
| 1–9 | 115 (55) | 32 (42) | 44 (75) | 11 (65) | 9 (64) | 10 (59) | 9 (36) | 0.001 |
| 10–14 | 65 (31) | 28 (37) | 14 (24) | 5 (29) | 2 (14) | 4 (24) | 12 (48) | |
| 15–18 | 24 (12) | 15 (20) | 0 (0) | 1 (6) | 3 (21) | 1 (6) | 4 (16) | |
| 19–25 | 4 (2) | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 2 (12) | 0 (0) | |
| Unknown/Missing | 10 | 7 | 1 | 0 | 1 | 1 | 0 | |
| Year of diagnosis | ||||||||
| 1992–2007 | 90 (43) | 26 (34) | 26 (44) | 8 (47) | 5 (36) | 2 (13) | 23 (92) | 0.171 |
| 2008–2018 | 117 (57) | 50 (66) | 33 (56) | 9 (53) | 9 (64) | 14 (88) | 2 (8) | |
| Unknown/Missing | 11 | 7 | 1 | 0 | 1 | 2 | 0 | |
| Race | ||||||||
| Asian | 62 (48) | 20 (44) | 28 (72) | 5 (45) | 4 (40) | 2 (22) | 3 (20) | 0.083 |
| White | 59 (46) | 23 (51) | 11 (28) | 6 (55) | 5 (50) | 6 (67) | 8 (53) | |
| Other | 8 (6) | 2 (4) | 0 (0) | 0 (0) | 1 (10) | 1 (11) | 4 (27) | |
| Unknown/Missing | 89 | 38 | 21 | 6 | 5 | 9 | 10 | |
| WBC count (106/L) | ||||||||
| <50,000 | 151 (74) | 59 (79) | 37 (64) | 13 (81) | 8 (57) | 15 (88) | 19 (76) | 0.088 |
| >50,000 | 54 (26) | 16 (21) | 21 (36) | 3 (19) | 6 (43) | 2 (12) | 6 (24) | |
| Unknown/Missing | 13 | 8 | 2 | 1 | 1 | 1 | 0 | |
| NCI risk group | ||||||||
| Standard Risk | 73 (35) | 24 (32) | 24 (41) | 8 (50) | 5 (36) | 8 (47) | 4 (16) | 0.524 |
| High Risk | 133 (65) | 52 (68) | 34 (59) | 8 (50) | 9 (64) | 9 (53) | 21 (84) | |
| Missing | 12 | 7 | 2 | 1 | 1 | 1 | 0 | |
| CNS3 disease at diagnosis | ||||||||
| Yes | 5 (3) | 1 (2) | 1 (2) | 0 (0) | 1 (8) | 1 (7) | 1 (4) | 0.567 |
| No | 165 (97) | 56 (98) | 45 (98) | 15 (100) | 11 (92) | 14 (93) | 24 (96) | |
| Unknown/Missing | 48 | 26 | 14 | 2 | 3 | 3 | 0 | |
| Traumatic lumbar puncture | ||||||||
| Yes, Blasts | 4 (4) | 0 (0) | 2 (6) | 0 (0) | 1 (14) | 0 (0) | 1 (20) | 0.386 |
| Yes, No Blasts | 6 (5) | 4 (9) | 2 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | |
| No | 99 (91) | 42 (91) | 29 (88) | 9 (100) | 6 (86) | 9 (100) | 4 (80) | |
| Unknown/Missing | 109 | 37 | 27 | 8 | 8 | 9 | 20 | |
| Immunophenotype | ||||||||
| B-Lineage | 205 (100) | 75 (99) | 57 (97) | 17 (100) | 14 (93) | 17 (100) | 25 (100) | N/A |
| T-Lineage | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | |
| Unknown/Missing | 13 | 8 | 3 | 0 | 1 | 1 | 0 | |
| BM Blasts at diagnosis | ||||||||
| <20 | 20 (34) | 6 (33) | 3 (21) | 2 (100) | 2 (67) | 1 (50) | 6 (32) | 0.161 |
| 20–39 | 13 (22) | 4 (22) | 6 (43) | 0 (0) | 0 (0) | 0 (0) | 3 (16) | |
| 40–59 | 11 (19) | 6 (33) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (26) | |
| 60–80 | 7 (12) | 1 (6) | 3 (21) | 0 (0) | 0 (0) | 1 (50) | 2 (11) | |
| >80 | 7 (12) | 1 (6) | 2 (14) | 0 (0) | 1 (33) | 0 (0) | 3 (16) | |
| Unknown/Missing | 160 | 65 | 46 | 15 | 12 | 16 | 6 | |
| Minimal residual disease (Neg < 0.01%) | ||||||||
| Positive | 18 (23) | 5 (16) | 6 (32) | 0 (0) | 1 (17) | 4 (33) | 2 (33) | 0.491 |
| Negative | 59 (77) | 26 (84) | 13 (68) | 3 (100) | 5 (83) | 8 (67) | 4 (67) | |
| Unknown/Missing | 141 | 52 | 41 | 14 | 9 | 6 | 19 | |
| Complete remission achieved | ||||||||
| Yes | 199 (99) | 74 (100) | 56 (98) | 13 (100) | 14 (100) | 17 (100) | 25 (100) | 0.721 |
| No | 1 (1) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | |
| Unknown/Missing | 18 | 9 | 3 | 4 | 1 | 1 | 0 | |
| Stem cell transplant received | ||||||||
| Yes | 42 (23) | 20 (26) | 13 (25) | 2 (13) | 4 (29) | 3 (20) | 0 (0) | 0.85 |
| No | 138 (77) | 58 (74) | 39 (75) | 13 (87) | 10 (71) | 12 (80) | 6 (100) | |
| Unknown/Missing | 38 | 5 | 8 | 2 | 1 | 3 | 19 | |
| Treatment risk groups | ||||||||
| Non-high risk | 144 (69) | 58 (73) | 31 (54) | 13 (76) | 9 (64) | 11 (65) | 22 (96) | 0.215 |
| High risk | 64 (31) | 22 (28) | 26 (46) | 4 (24) | 5 (36) | 6 (35) | 1 (4) | |
| Unknown/Missing | 10 | 3 | 3 | 0 | 1 | 1 | 2 | |
aThe other group includes 6 cases of EWSR1 and 1 case each of ARID1B, BMP2K, CLLORF74, CCAR1, CLTC, DUX4, NIPBL, SEC24B, SMARCA2, USP25; plus two cases where testing showed that the partner gene was not one of the four common genes.
bMissing group includes cases where information about the partner gene was not provided or where the involvement of ZNF384 was confirmed by FISH only.