Analysis of the VDJ rearrangement in the 27 CLL patients expressing mutated VH genes
| Patients . | Germinal counterpart . | Homology % . | FR mutation . | RS . | CDR mutation . | RS . | CDR/FR . | D . | JH . | VL . | Homology % . | JL . | Initial stage . | Disease status . | Follow-up (months) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1-69* | 92.4 | 11 | 0.83 | 8 | 3 | 0.72 | D5-24 | JH3b | VκA27 | 95 | κ1 | A | SD | A(79) |
| 2 | 1-69 | 93 | 9 | 3.5 | 3 | >3 | 0.33 | D3-22 | JH4 | VκA17 | 95 | κ2 | A | SD | DUD(66) |
| 3 | 1-02 | 90.1 | 21 | 1.33 | 8 | 3 | 0.38 | D2-21 | JH4b | VκA30 | 97 | κ4 | A | SD | A(33) |
| 4 | 1-18 | 93.2 | 16 | 3 | 4 | 1 | 0.25 | ND | JH4b | 02-012 | 95 | κ4 | B | SD | A(123) |
| 5 | 1-18 | 91.5 | 11 | 0.57 | 10 | 9 | 0.91 | D3-09 | JH4b | B3 | 100 | κ1 | A | PD | D(102) |
| 6 | 2-05 | 93.9 | 12 | 5 | 5 | >5 | 0.41 | D4-11 | JH4 | Vκ012 | 94 | κ2 | A | SD | A(252) |
| 7 | 2-05 | 96.7 | 3 | 2 | 5 | 4 | 1.66 | D3-22 | JH4b | ND | A | PD | D(93) | ||
| 8 | 2-05 | 85.7 | 31 | 2.87 | 8 | 7 | 0.26 | D6-19 | JH5a | VκA20 | 95 | κ4 | A | SD | DUD(124) |
| 9 | 2-05 | 93.0 | 13 | 5.5 | 6 | 1 | 0.46 | D1-07 | JH4b | VκA11 | 93 | κ4 | A | SD | DUD(37) |
| 10 | 3-73 | 90.3 | 16 | 2.2 | 13 | 3.3 | 0.81 | D2-02 | JH6b | B3 | 95 | κ1 | C | NA | A(35) |
| 11 | 3-21 | 93.3 | 11 | 1.2 | 9 | 2 | 0.82 | D2-21 | JH4b | L16 | 97 | κ1 | A | PD | A(73) |
| 12 | 3-23 | 93.3 | 14 | 2.5 | 6 | 2 | 0.43 | D3-22 | JH4b | L1 | 98 | κ4 | A | SD | A(75) |
| 13 | 3-23 | 90.8 | 22 | 0.83 | 5 | 4 | 0.22 | D6-19 | JH4b | ND | A | SD | A(83) | ||
| 14 | 3-30 | 85 | 24 | 2.42 | 11 | 10 | 0.45 | ND | ND | VκA17 | 92 | κ2 | A | SD | A(144) |
| 15 | 3-23 | 93.2 | 12 | 0.71 | 8 | >8 | 0.67 | D3-03 | JH4b | ND | A | SD | A(162) | ||
| 16 | 3-7 | 97.4 | 4 | 3 | 3 | >3 | 0.75 | D3-22 | JH4b | ND | A | SD | A(117) | ||
| 17 | 3-15 | 92.2 | 16 | 1.67 | 7 | >7 | 0.44 | ND | JH5b | B3 | κ4 | A | SD | A(140) | |
| 18 | 3-74 | 90.8 | 18 | 1.57 | 9 | 2 | 0.5 | ND | JH4b | ND | A | SD | A(108) | ||
| 19 | 3-23 | 92.9 | 11 | 4.5 | 10 | >10 | 0.91 | D6-06 | JH4b | ND | A | PD | A(84) | ||
| 20 | 3-23 | 94 | 5 | 4 | 3 | >3 | 0.6 | D1-26 | JH5a | Vλ-3h | 97.4 | λ3b | A | PD | A(120) |
| 21 | 3-53 | 96.8 | 4 | 3 | 3 | 2 | 0.75 | ND | JH4 | ND | B | PD | A(124) | ||
| 22 | 4-34 | 96.9 | 5 | 4 | 4 | >4 | 0.8 | D5-05 | JH6b | ND | A | PD | A(103) | ||
| 23 | 4-34 | 94.8 | 13 | 2.25 | 2 | >2 | 0.15 | D2-21 | JH4b | ND | A | SD | A(70) | ||
| 24 | 4-34 | 92.8 | 11 | 1.75 | 7 | 1.3 | 0.63 | ND | ND | 012-02 | 93 | κ2 | A | SD | A(152) |
| 25 | 4-34 | 92.4 | 16 | 0.78 | 6 | 1 | 0.37 | D3-22 | JH4b | VκA27 | 98 | κ1 | A | PD | A(40) |
| 26 | 5-51 | 92.2 | 17 | 2.4 | 6 | 5 | 0.35 | ND | JH5a | ND | A | SD | DUD(76) | ||
| 27 | 6-01 | 95.4 | 11 | 0.8 | 3 | 2 | 0.27 | D2-15 | JH4d | B3 | 95 | κ4 | A | SD | A(121) |
| Patients . | Germinal counterpart . | Homology % . | FR mutation . | RS . | CDR mutation . | RS . | CDR/FR . | D . | JH . | VL . | Homology % . | JL . | Initial stage . | Disease status . | Follow-up (months) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1-69* | 92.4 | 11 | 0.83 | 8 | 3 | 0.72 | D5-24 | JH3b | VκA27 | 95 | κ1 | A | SD | A(79) |
| 2 | 1-69 | 93 | 9 | 3.5 | 3 | >3 | 0.33 | D3-22 | JH4 | VκA17 | 95 | κ2 | A | SD | DUD(66) |
| 3 | 1-02 | 90.1 | 21 | 1.33 | 8 | 3 | 0.38 | D2-21 | JH4b | VκA30 | 97 | κ4 | A | SD | A(33) |
| 4 | 1-18 | 93.2 | 16 | 3 | 4 | 1 | 0.25 | ND | JH4b | 02-012 | 95 | κ4 | B | SD | A(123) |
| 5 | 1-18 | 91.5 | 11 | 0.57 | 10 | 9 | 0.91 | D3-09 | JH4b | B3 | 100 | κ1 | A | PD | D(102) |
| 6 | 2-05 | 93.9 | 12 | 5 | 5 | >5 | 0.41 | D4-11 | JH4 | Vκ012 | 94 | κ2 | A | SD | A(252) |
| 7 | 2-05 | 96.7 | 3 | 2 | 5 | 4 | 1.66 | D3-22 | JH4b | ND | A | PD | D(93) | ||
| 8 | 2-05 | 85.7 | 31 | 2.87 | 8 | 7 | 0.26 | D6-19 | JH5a | VκA20 | 95 | κ4 | A | SD | DUD(124) |
| 9 | 2-05 | 93.0 | 13 | 5.5 | 6 | 1 | 0.46 | D1-07 | JH4b | VκA11 | 93 | κ4 | A | SD | DUD(37) |
| 10 | 3-73 | 90.3 | 16 | 2.2 | 13 | 3.3 | 0.81 | D2-02 | JH6b | B3 | 95 | κ1 | C | NA | A(35) |
| 11 | 3-21 | 93.3 | 11 | 1.2 | 9 | 2 | 0.82 | D2-21 | JH4b | L16 | 97 | κ1 | A | PD | A(73) |
| 12 | 3-23 | 93.3 | 14 | 2.5 | 6 | 2 | 0.43 | D3-22 | JH4b | L1 | 98 | κ4 | A | SD | A(75) |
| 13 | 3-23 | 90.8 | 22 | 0.83 | 5 | 4 | 0.22 | D6-19 | JH4b | ND | A | SD | A(83) | ||
| 14 | 3-30 | 85 | 24 | 2.42 | 11 | 10 | 0.45 | ND | ND | VκA17 | 92 | κ2 | A | SD | A(144) |
| 15 | 3-23 | 93.2 | 12 | 0.71 | 8 | >8 | 0.67 | D3-03 | JH4b | ND | A | SD | A(162) | ||
| 16 | 3-7 | 97.4 | 4 | 3 | 3 | >3 | 0.75 | D3-22 | JH4b | ND | A | SD | A(117) | ||
| 17 | 3-15 | 92.2 | 16 | 1.67 | 7 | >7 | 0.44 | ND | JH5b | B3 | κ4 | A | SD | A(140) | |
| 18 | 3-74 | 90.8 | 18 | 1.57 | 9 | 2 | 0.5 | ND | JH4b | ND | A | SD | A(108) | ||
| 19 | 3-23 | 92.9 | 11 | 4.5 | 10 | >10 | 0.91 | D6-06 | JH4b | ND | A | PD | A(84) | ||
| 20 | 3-23 | 94 | 5 | 4 | 3 | >3 | 0.6 | D1-26 | JH5a | Vλ-3h | 97.4 | λ3b | A | PD | A(120) |
| 21 | 3-53 | 96.8 | 4 | 3 | 3 | 2 | 0.75 | ND | JH4 | ND | B | PD | A(124) | ||
| 22 | 4-34 | 96.9 | 5 | 4 | 4 | >4 | 0.8 | D5-05 | JH6b | ND | A | PD | A(103) | ||
| 23 | 4-34 | 94.8 | 13 | 2.25 | 2 | >2 | 0.15 | D2-21 | JH4b | ND | A | SD | A(70) | ||
| 24 | 4-34 | 92.8 | 11 | 1.75 | 7 | 1.3 | 0.63 | ND | ND | 012-02 | 93 | κ2 | A | SD | A(152) |
| 25 | 4-34 | 92.4 | 16 | 0.78 | 6 | 1 | 0.37 | D3-22 | JH4b | VκA27 | 98 | κ1 | A | PD | A(40) |
| 26 | 5-51 | 92.2 | 17 | 2.4 | 6 | 5 | 0.35 | ND | JH5a | ND | A | SD | DUD(76) | ||
| 27 | 6-01 | 95.4 | 11 | 0.8 | 3 | 2 | 0.27 | D2-15 | JH4d | B3 | 95 | κ4 | A | SD | A(121) |
RS: replacement/silent mutation ratio; CDR/FR: CDR/FR mutation ratio; when all mutations induced replacements, results are expressed as > number of replacements observed. Asterisk: hv1263. A (alive); D (death related to CLL); DUD (death unrelated to CLL); SD (stable disease); PD (progressive disease); ND (not done). GenBank Accession numbers are respectively: VH genes: AF196469-AF196475 (cases 24, 14, 16, 21, 6, 7, 1); U92427-U92429 (cases 17-19); AF087418-AF087426 (cases 10-12, 26, 22, 3, 23, 13, 4); AF087429 (case 15); U86797 (case 2);U86785 (case 5); U86788 (case 8); U86789 (case 9); U86798 (case 20);AF087428 (case 25); AF087417 (case 27). VL genes: U86804 (case 2);U86791 (case 5); U86793 (case 8); U86794 (case 9); U92430 (case 17);U86805 (case 20); AF228320-AF228328 (cases 10-12, 3, 27, 4, 25, 24, 1); AF2283230 (case 14); AF2283231 (case 6). κ/λ is accounted by the fact that for familial cases we have only proceeded to study κ-expressing patients.