Table 1:
Patient characteristics in clinical analyses
| Overall* N (%) | IGHV mutated N (%) | IGHV unmutated N (%) | Treatment Naïveǂ N (%) | Treatment Naïveǂ IGHV mutated N (%) | Treatment Naïveǂ IGHV unmutated N (%) | Expression Cluster Cohort N (%) | Integrated Analysis N (%) | |
|---|---|---|---|---|---|---|---|---|
| N, Patients | 1009 | 518 | 476 | 640 | 393 | 247 | 603 | 506 |
| Site | ||||||||
| UCSD | 21 (2) | 8 (2) | 13 (3) | 21 (3) | 8 (2) | 13 (5) | 20 (3) | 17 (3) |
| DFCI | 172 (17) | 103 (20) | 69 (15) | 138 (22) | 96 (24) | 42 (17) | 105 (17) | 64 (13) |
| GCLLSG | 278 (28) | 107 (21) | 160 (34) | 0 (0) | 0 (0) | 0 (0) | 206 (34) | 172 (34) |
| MDACC | 22 (2) | 0 (0) | 21 (4) | 2 (<1) | 0 (0) | 2 (1) | 0 (0) | 0 (0) |
| NHLBI | 68 (7) | 23 (4) | 45 (9) | 46 (7) | 19 (5) | 27 (11) | 11 (2) | 10 (2) |
| ICGC | 448 (44) | 277 (53) | 168 (35) | 433 (68) | 270 (69) | 163 (66) | 261 (43) | 243 (48) |
| Treatment Naïve | 920 (91) | 500 (97) | 407 (86) | 640 (100) | 393 (100) | 247 (100) | 603 (100) | 0 (0) |
| Age at time of Sample yrs, median (range) | 63 (19, 94) | 65 (32, 90) | 61 (19, 94) | 65 (19, 94) | 66 (32, 90) | 62 (19, 94) | 63 (32, 91) | 63 (34, 91) |
| <60 yrs. | 375 (37) | 163 (31) | 208 (44) | 227 (35) | 118 (30) | 109 (44) | 226 (37) | 189 (37) |
| ≥60 yrs. | 634 (63) | 355 (69) | 268 (56) | 413 (65) | 275 (70) | 138 (56) | 377 (63) | 317 (63) |
| Sex | ||||||||
| Male | 655 (65) | 308 (59) | 336 (71) | 384 (60) | 218 (55) | 166 (67) | 405 (67) | 342 (68) |
| Female | 354 (35) | 210 (41) | 140 (29) | 256 (40) | 175 (45) | 81 (33) | 198 (33) | 164 (32) |
| Rai Stage at Dx | ||||||||
| 0 | 368 (36) | 250 (48) | 115 (24) | 347 (54) | 241 (61) | 106 (43) | 222 (37) | 185 (37) |
| 1 | 192 (19) | 74 (14) | 113 (24) | 105 (16) | 53 (13) | 52 (21) | 122 (20) | 101 (20) |
| 2 | 114 (11) | 47 (9) | 65 (14) | 30 (5) | 13 (3) | 17 (7) | 67 (11) | 56 (11) |
| 3 | 15 (1) | 4 (1) | 11 (2) | 7 (1) | 1 (<1) | 6 (2) | 9 (1) | 7 (1) |
| 4 | 31 (3) | 12 (2) | 19 (4) | 8 (1) | 4 (1) | 4 (2) | 18 (3) | 16 (3) |
| Unknown | 290 (29) | 132 (25) | 153 (32) | 143 (22) | 81 (21) | 62 (25) | 165 (27) | 141 (28) |
| IGHV | ||||||||
| mutated | 518 (51) | 518 (0) | 0 (0) | 394 (61) | 393 (100) | 0 (0) | 319 (53) | 272 (54) |
| unmutated | 476 (47) | 0 (0) | 476 (0) | 247 (39) | 0 (0) | 247 (100) | 272 (45) | 234 (46) |
| unknown | 15 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 12 (2) | 0 (0) |
| Expression Cluster | ||||||||
| EC-m1 | --- | --- | --- | --- | --- | --- | 53 (9) | 47 (9) |
| EC-u1 | --- | --- | --- | --- | --- | --- | 188 (31) | 152 (30) |
| EC-m2 | --- | --- | --- | --- | --- | --- | 48 (8) | 43 (9) |
| EC-o | --- | --- | --- | --- | --- | --- | 21 (3) | 19 (4) |
| EC-u2 | --- | --- | --- | --- | --- | --- | 64 (11) | 53 (10) |
| EC-m3 | --- | --- | --- | --- | --- | --- | 54 (9) | 47 (9) |
| EC-m4 | --- | --- | --- | --- | --- | --- | 113 (19) | 92 (18) |
| EC-i | --- | --- | --- | --- | --- | --- | 62 (10) | 53 (10) |
| Epitype (n=874)** | ||||||||
| memory | 342 (39) | --- | --- | --- | --- | --- | --- | 216 (43) |
| intermediate | 141 (16) | --- | --- | --- | --- | --- | --- | 79 (16) |
| naïve | 391 (45) | --- | --- | --- | --- | --- | --- | 211 (42) |
| Copy number alterations*** | ||||||||
| tri(12) | 149 (15) | 52 (10) | 94 (20) | 90 (14) | 34 (9) | 56 (23) | --- | 68 (13) |
| del(13q14.3) | 488 (48) | 293 (56) | 188 (40) | 306 (48) | 219 (56) | 87 (35) | --- | 255 (50) |
| del(11q) | 169 (17) | 24 (5) | 163 (34) | 83 (21) | 11 (3) | 72 (30) | --- | 87 (17) |
| del(17p) | 89 (9) | 13 (3) | 56 (12) | 30 (5) | 9 (2) | 21 (9) | --- | 31 (7) |
ǂ
excluding patients sampled because they had enrolled on a treatment trial
Abbreviations: UCSD, University of California San Diego. DFCI, Dana-Farber Cancer Institute. GCLLSG, German CLL Study Group. MDACC, MD Anderson Cancer Center. NHLBI, National Heart Lung and Blood Institute. ICGC, International Cancer Genome Consortium.
*
with OS and sequencing data.
**
Epitype was not included in the genetics analyses, but it is included for descriptive purposes.
***
All copy number alterations were defined by GISTIC (Methods). del(17p) and del(11q) includes arm and focal events encompassing TP53 [del(17p) + del(17p13.1)] and ATM [del(11q) + del(11q22.3)].
--- Not analyzed in the cohort.