Clinical and biological characteristics of studied cohorts
| . | n (%) . | |
|---|---|---|
| C1-CLL (n = 506) . | C2-CLL (n = 78) . | |
| Diagnosis | ||
| High-count MBL | 54 (11) | 0 |
| CLL | 452 (89) | 78 (100) |
| Sex | ||
| Female | 205 (41) | 29 (37) |
| Male | 301 (59) | 49 (63) |
| Age at diagnosis, y | ||
| Median | 62 | 62 |
| Range | 18-93 | 38-83 |
| Binet stage at diagnosis | ||
| A | 441 (87) | 54 (69) |
| B | 49 (10) | 12 (15) |
| C | 11 (2) | 1 (1) |
| Not available | 5 (1) | 11 (14) |
| WGS/WES | ||
| WGS | 65 (13) | 78 (100) |
| WGS and WES | 87 (17) | 0 |
| WES | 354 (70) | 0 |
| RNA-seq | 294 (58) | 75 (96) |
| Epigenetic subtype | ||
| m-CLL | 269 (53) | 33 (42) |
| i-CLL | 69 (14) | 12 (15) |
| n-CLL | 163 (32) | 29 (37) |
| Not available | 5 (1) | 4 (5) |
| IGHV mutational status | ||
| M-IGHV | 321 (63) | 46 (59) |
| U-IGHV | 185 (37) | 32 (41) |
| Light chain gene rearrangement* | ||
| κ | 315 (62) | 41 (5) |
| κ and λ | 3 (1) | 3 (4) |
| λ | 153 (30) | 34 (44) |
| Not detected | 35 (7) | 0 |
| . | n (%) . | |
|---|---|---|
| C1-CLL (n = 506) . | C2-CLL (n = 78) . | |
| Diagnosis | ||
| High-count MBL | 54 (11) | 0 |
| CLL | 452 (89) | 78 (100) |
| Sex | ||
| Female | 205 (41) | 29 (37) |
| Male | 301 (59) | 49 (63) |
| Age at diagnosis, y | ||
| Median | 62 | 62 |
| Range | 18-93 | 38-83 |
| Binet stage at diagnosis | ||
| A | 441 (87) | 54 (69) |
| B | 49 (10) | 12 (15) |
| C | 11 (2) | 1 (1) |
| Not available | 5 (1) | 11 (14) |
| WGS/WES | ||
| WGS | 65 (13) | 78 (100) |
| WGS and WES | 87 (17) | 0 |
| WES | 354 (70) | 0 |
| RNA-seq | 294 (58) | 75 (96) |
| Epigenetic subtype | ||
| m-CLL | 269 (53) | 33 (42) |
| i-CLL | 69 (14) | 12 (15) |
| n-CLL | 163 (32) | 29 (37) |
| Not available | 5 (1) | 4 (5) |
| IGHV mutational status | ||
| M-IGHV | 321 (63) | 46 (59) |
| U-IGHV | 185 (37) | 32 (41) |
| Light chain gene rearrangement* | ||
| κ | 315 (62) | 41 (5) |
| κ and λ | 3 (1) | 3 (4) |
| λ | 153 (30) | 34 (44) |
| Not detected | 35 (7) | 0 |
Productive light-chain gene rearrangement identified by WGS, WES, and/or RNA-seq. Flow cytometry in 31 of 35 C1-CLL cases in which rearrangement was not detected by sequencing detected expression of κ in 18, λ in 11, and κ/λ in 2 cases. Light-chain expression by flow cytometry was not available for remaining 4 cases.