Frequencies of NOTCH1 and SF3B1 mutations and clinical characteristics of the 494 LRF CLL4 patients
| Variable . | NOTCH1 (all PEST terminating mutations) . | SF3B1 (previously shown as somatic in CLL) . | ||||||
|---|---|---|---|---|---|---|---|---|
| Total N (%) . | Wild-type N (%) . | Mutated N (%) . | P . | Total N (%) . | Wild-type N (%) . | Mutated N (%) . | P . | |
| Screened cases | 466 (94) | 420 (90) | 46 (10) | 437 (88) | 364 (83) | 73 (17) | ||
| Male | 344 (74) | 307 (89) | 37 (11) | NS | 319 (73) | 263 (82) | 56 (18) | NS |
| Female | 122 (26) | 113 (93) | 9 (7) | 118 (27) | 101 (86) | 17 (14) | ||
| Age (range)* | 63 (38-86) | 66 (48-83) | 63 (38-83) | 64 (42-82) | ||||
| Binet stage* | NS | NS | ||||||
| A | 106 (23) | 96 (91) | 10 (9) | 97 (22) | 85 (88) | 12 (12) | ||
| B | 218 (47) | 192 (88) | 26 (12) | 209 (48) | 172 (82) | 37 (18) | ||
| C | 142 (30) | 132 (93) | 10 (7) | 131 (30) | 107 (82) | 24 (18) | ||
| IGHV unmutated | 240 (63) | 209 (87) | 31 (13) | .01 | 228 (64) | 184 (81) | 44 (19) | NS |
| mutated | 144 (37) | 137 (95) | 7 (5) | 131 (36) | 115 (88) | 16 (12) | ||
| CD38 −ve | 212 (55) | 203 (96) | 9 (4) | .0001 | 193 (55) | 173 (90) | 20 (10) | .007 |
| +ve | 170 (44) | 139 (82) | 31 (18) | 160 (45) | 126 (79) | 34 (21) | ||
| ZAP70 −ve | 164 (47) | 155 (95) | 9 (5) | .008 | 154 (47) | 132 (86) | 22 (14) | NS |
| +ve | 186 (53) | 159 (85) | 27 (15) | 174 (53) | 141 (81) | 33 (19) | ||
| TP53 normal | 408 (93) | 368 (90) | 40 (10) | NS | 388 (94) | 323 (83) | 65 (17) | NS |
| del/mut | 32 (7) | 28 (87) | 4 (13) | 24 (6) | 21 (88) | 3 (12) | ||
| del(11q) −ve | 352 (80) | 314 (89) | 38 (11) | NS | 330 (80) | 273 (83) | 57 (7) | NS |
| +ve | 89 (20) | 83 (93) | 6 (7) | 83 (20) | 72 (87) | 11 (13) | ||
| del(13q) −ve† | 272 (62) | 240 (88) | 32 (12) | NS | 254 (62) | 214 (85) | 40 (15) | NS |
| +ve | 166 (38) | 154 (93) | 12 (7) | 156 (38) | 128 (82) | 28 (18) | ||
| Tri12 −ve | 369 (84) | 340 (92) | 29 (8) | .002 | 343 (83) | 278 (81) | 65 (19) | .001 |
| +ve | 72 (16) | 57 (79) | 15 (21) | 70 (17) | 67 (96) | 3 (4) | ||
| Variable . | NOTCH1 (all PEST terminating mutations) . | SF3B1 (previously shown as somatic in CLL) . | ||||||
|---|---|---|---|---|---|---|---|---|
| Total N (%) . | Wild-type N (%) . | Mutated N (%) . | P . | Total N (%) . | Wild-type N (%) . | Mutated N (%) . | P . | |
| Screened cases | 466 (94) | 420 (90) | 46 (10) | 437 (88) | 364 (83) | 73 (17) | ||
| Male | 344 (74) | 307 (89) | 37 (11) | NS | 319 (73) | 263 (82) | 56 (18) | NS |
| Female | 122 (26) | 113 (93) | 9 (7) | 118 (27) | 101 (86) | 17 (14) | ||
| Age (range)* | 63 (38-86) | 66 (48-83) | 63 (38-83) | 64 (42-82) | ||||
| Binet stage* | NS | NS | ||||||
| A | 106 (23) | 96 (91) | 10 (9) | 97 (22) | 85 (88) | 12 (12) | ||
| B | 218 (47) | 192 (88) | 26 (12) | 209 (48) | 172 (82) | 37 (18) | ||
| C | 142 (30) | 132 (93) | 10 (7) | 131 (30) | 107 (82) | 24 (18) | ||
| IGHV unmutated | 240 (63) | 209 (87) | 31 (13) | .01 | 228 (64) | 184 (81) | 44 (19) | NS |
| mutated | 144 (37) | 137 (95) | 7 (5) | 131 (36) | 115 (88) | 16 (12) | ||
| CD38 −ve | 212 (55) | 203 (96) | 9 (4) | .0001 | 193 (55) | 173 (90) | 20 (10) | .007 |
| +ve | 170 (44) | 139 (82) | 31 (18) | 160 (45) | 126 (79) | 34 (21) | ||
| ZAP70 −ve | 164 (47) | 155 (95) | 9 (5) | .008 | 154 (47) | 132 (86) | 22 (14) | NS |
| +ve | 186 (53) | 159 (85) | 27 (15) | 174 (53) | 141 (81) | 33 (19) | ||
| TP53 normal | 408 (93) | 368 (90) | 40 (10) | NS | 388 (94) | 323 (83) | 65 (17) | NS |
| del/mut | 32 (7) | 28 (87) | 4 (13) | 24 (6) | 21 (88) | 3 (12) | ||
| del(11q) −ve | 352 (80) | 314 (89) | 38 (11) | NS | 330 (80) | 273 (83) | 57 (7) | NS |
| +ve | 89 (20) | 83 (93) | 6 (7) | 83 (20) | 72 (87) | 11 (13) | ||
| del(13q) −ve† | 272 (62) | 240 (88) | 32 (12) | NS | 254 (62) | 214 (85) | 40 (15) | NS |
| +ve | 166 (38) | 154 (93) | 12 (7) | 156 (38) | 128 (82) | 28 (18) | ||
| Tri12 −ve | 369 (84) | 340 (92) | 29 (8) | .002 | 343 (83) | 278 (81) | 65 (19) | .001 |
| +ve | 72 (16) | 57 (79) | 15 (21) | 70 (17) | 67 (96) | 3 (4) | ||
Age and disease stage were both assessed at trial entry. NS indicates nonsignificant (significance level = .05). TP53 abnormalities defined by deletion and/or mutation (del/mut).
The presence of a 13q deletion as a sole abnormality using a standard FISH panel. P values were calculated from 2 × 2 or 2 × 3 χ2 tests (Fisher exact test was used when observations were < 5).