Clinical and molecular characteristics of patients with familial and sporadic CLL
| . | Sporadic CLL (n = 320) . | Familial CLL (n = 160) . | P value . |
|---|---|---|---|
| Age at diagnosis, median (IQR), y | 62 (52-69) | 63 (52-68) | n.e. |
| Sex, n (%) | n.e. | ||
| M | 172 (53.8) | 86 (53.8) | |
| F | 148 (46.3) | 74 (46.3) | |
| Rai stage at diagnosis, n (%) | .56 | ||
| 0 | 156 (48.8) | 67 (41.9) | |
| I | 61 (19.1) | 38 (23.8) | |
| II | 75 (23.4) | 39 (24.4) | |
| III | 6 (1.9) | 6 (3.8) | |
| IV | 8 (2.5) | 3 (1.9) | |
| Unknown | 14 (4.4) | 7 (4.4) | |
| Binet stage at diagnosis, n (%) | .72 | ||
| A | 223 (69.7) | 111 (69.4) | |
| B | 75 (23.4) | 36 (22.5) | |
| C | 8 (2.5) | 7 (4.4) | |
| Unknown | 14 (4.4) | 6 (3.8) | |
| Splenomegaly, n (%) | 64/283 (22.6) | 41/151 (27.2) | .29 |
| Lymph nodes at diagnosis >5 cm, n (%) | 8/290 (2.8) | 11/152 (7.2) | .027 |
| IgG <400 mg/dL, n (%) | 6/178 (3.4) | 4/95 (4.2) | .72 |
| del(17p), n (%) | 15/235 (6.4) | 13/115 (11.3) | .11 |
| del(13q), n (%) | 104/233 (44.6) | 61/115 (53.0) | .14 |
| del(11q), n (%) | 13/234 (5.6) | 12/115 (10.4) | .10 |
| Trisomy 12, n (%) | 32/234 (13.7) | 9/115 (7.8) | .11 |
| Unmutated IGHV gene, n (%) | 77/213 (36.2) | 61/110 (55.5) | <.001 |
| Mutated TP53, n (%) | 23/166 (13.9) | 13/96 (13.5) | .94 |
| Mutated NOTCH1, n (%) | 30/131 (22.9) | 17/56 (30.4) | .28 |
| Mutated SF3B1, n (%) | 22/127 (17.3) | 4/38 (10.5) | .31 |
| Mutated BIRC3, n (%) | 15/127 (11.8) | 4/37 (10.8) | .87 |
| . | Sporadic CLL (n = 320) . | Familial CLL (n = 160) . | P value . |
|---|---|---|---|
| Age at diagnosis, median (IQR), y | 62 (52-69) | 63 (52-68) | n.e. |
| Sex, n (%) | n.e. | ||
| M | 172 (53.8) | 86 (53.8) | |
| F | 148 (46.3) | 74 (46.3) | |
| Rai stage at diagnosis, n (%) | .56 | ||
| 0 | 156 (48.8) | 67 (41.9) | |
| I | 61 (19.1) | 38 (23.8) | |
| II | 75 (23.4) | 39 (24.4) | |
| III | 6 (1.9) | 6 (3.8) | |
| IV | 8 (2.5) | 3 (1.9) | |
| Unknown | 14 (4.4) | 7 (4.4) | |
| Binet stage at diagnosis, n (%) | .72 | ||
| A | 223 (69.7) | 111 (69.4) | |
| B | 75 (23.4) | 36 (22.5) | |
| C | 8 (2.5) | 7 (4.4) | |
| Unknown | 14 (4.4) | 6 (3.8) | |
| Splenomegaly, n (%) | 64/283 (22.6) | 41/151 (27.2) | .29 |
| Lymph nodes at diagnosis >5 cm, n (%) | 8/290 (2.8) | 11/152 (7.2) | .027 |
| IgG <400 mg/dL, n (%) | 6/178 (3.4) | 4/95 (4.2) | .72 |
| del(17p), n (%) | 15/235 (6.4) | 13/115 (11.3) | .11 |
| del(13q), n (%) | 104/233 (44.6) | 61/115 (53.0) | .14 |
| del(11q), n (%) | 13/234 (5.6) | 12/115 (10.4) | .10 |
| Trisomy 12, n (%) | 32/234 (13.7) | 9/115 (7.8) | .11 |
| Unmutated IGHV gene, n (%) | 77/213 (36.2) | 61/110 (55.5) | <.001 |
| Mutated TP53, n (%) | 23/166 (13.9) | 13/96 (13.5) | .94 |
| Mutated NOTCH1, n (%) | 30/131 (22.9) | 17/56 (30.4) | .28 |
| Mutated SF3B1, n (%) | 22/127 (17.3) | 4/38 (10.5) | .31 |
| Mutated BIRC3, n (%) | 15/127 (11.8) | 4/37 (10.8) | .87 |
Significant associations with familial forms of CLL are set in bold.
F, female; IgG, immunoglobulin G; M, male; n.e., not evaluable.