Table 1

Patient cohort characteristics

Patient no.Age, years/sexStageCD38ZAP-70Germline homology/VH gene*FISHPrior treatmentAssay
CLL 1 57/F Rai 0 Negative Negative Mutated 5.7%, VH 2-26 13q− None Survival 
CLL 2 72/F Rai 0 Negative ND Mutated 5.5%, VH 3-53 Normal None Survival 
CLL 3 90/M Rai I Positive Positive Mutated 3.3%, VH 3-07 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 4 47/F Rai I Negative Negative Unmutated 1.4%, VH1-02 Normal None Survival and reporter assay 
CLL 5 90/M ND Negative Negative Mutated 6%, VH 6-0 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 6 76/M Rai 0 Positive Negative Mutated 3.1%, VH 3-15 Normal None Survival and reporter assay 
CLL 7 75/M ND Negative Negative Mutated 12.9%, VH 4-4 17p−, 13q−, +12 Yes Survival and reporter assay 
CLL 8 74/M Rai I Negative Negative Mutated 2.9%, VH 3-23 11q−, 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 9 60/M Rai II Negative Negative Unmutated 0.8%, VH 4-04 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 10 61/M Rai I Negative Positive Mutated 41%, VH 4-61 13q− None Reporter assay, β-catenin Western blot 
CLL 11 79/F ND Negative Negative Unmutated 0%, VH 4-39 13q− None Reporter assay 
CLL 12 54/M ND Negative Positive Unmutated 0%, VH1-69 11q− Yes Reporter assay 
CLL 13 57/M Rai 0 Negative Negative Mutated 8.2%, VH 3-23 13q− None Reporter assay, β-catenin Western blot 
CLL 14 67/M Rai II Negative Negative Mutated 5.7%, VH 3-09 13q− None Reporter assay 
CLL 15 79/M ND Positive Positive Unmutated 0%, VH 1-02 +12 None Reporter assay 
CLL 16 55/M ND Negative Positive Mutated 2.6%, VH 3-23 13q− None Reporter assay 
CLL 17 56/M Rai 0 Negative Negative Mutated 7.1%, VH 3-11 Normal None Reporter assay 
CLL 18 57/F Rai I Negative Positive Unmutated ?, VH ? 11q None Reporter assay 
CLL 19 53/F Rai 0 Negative Negative Mutated 8.3%, VH 3-64 13q− None Long-term culture LEF quantitative PCR 
CLL 20 57/F Rai 0 Negative Positive Unmutated 0%, VH 3-33 13q− None Long-term culture LEF quantitative PCR 
CLL 21 60/M Rai 0 Negative Negative Mutated 7.5%, VH 2-05 13q− None IGFBP4 ELISA 
CLL 22 63/F ND ND ND ND 13q− Unknown IGFBP4 ELISA 
CLL 23 Unknown ND ND ND ND ND Unknown IGFBP4 ELISA 
CLL 24 70/F Rai III Negative Negative Mutated 8.6%, VH 4-04 13q− None IGFBP4 ELISA 
CLL 25 79/M Rai I Positive Positive Unmutated 0%, VH 1-02 +12 None IGFBP4 ELISA 
CLL 26 64/M Rai 0 Negative Negative Mutated 11.1%, VH 4-4 13q− None IGFBP4 ELISA 
CLL 27 54/M Rai I Negative Negative Mutated 23.1%, VH 4-6 13q− None LEF flow cytometry 
CLL 28 61/M Rai IV Negative Negative ND 13q− None LEF flow cytometry and Wnt genes quantitative PCR 
CLL 29 43/M ND Negative Positive Unmutated 0%, VH 2-70 Normal None LEF flow cytometry and Wnt genes quantitative PCR 
CLL 30 72/F Rai II Positive Positive Mutated 3%, VH 3-30 13q− None Wnt genes quantitative PCR 
CLL 31 76/M Rai III Positive ND Unmutated 0%, VH 3-30 +12 None Wnt genes quantitative PCR 
CLL 32 66/M Rai 0 Negative ND Mutated 7.6%, VH 4-59 13q− None Wnt genes quantitative PCR 
CLL 33 68/M Rai IV Positive Positive Unmutated 0%, VH1-69 6q− None Wnt genes quantitative PCR 
CLL 34 49/F Rai 0 Negative Negative Mutated 9.7%, VH 4-28 13q− None Wnt genes quantitative PCR 
CLL 35 74/F Rai III Negative ND Unmutated 0%, VH1-69 +12 None Wnt genes quantitative PCR 
CLL 36 61/M Rai 0 Negative Positive Unmutated 0.8%, VH4-59 +12 None LEF Western blot 
CLL 37 68/M Rai I Negative Positive Unmutated 0%, VH1-69 Normal None LEF Western blot 
CLL 38 60/F Rai 0 Negative Negative Mutated 10.1%, VH 1-46 13q− None LEF Western blot 
CLL 39 49/M Rai I ND ND Mutated 6.8%, VH 3-23 13q− None LEF Western blot 
CLL 40 65/M Rai I Negative Negative Mutated 12.7%, VH 3-15 13q−, t(14;18) None LEF Western blot 
CLL 41 75/M Rai III Negative Negative Mutated 5.4%, VH 4-34 Normal None LEF Western blot 
CLL 42 59/M Rai I Positive Positive Unmutated 0.7%, VH1-24 13q− None LEF Western blot 
Patient no.Age, years/sexStageCD38ZAP-70Germline homology/VH gene*FISHPrior treatmentAssay
CLL 1 57/F Rai 0 Negative Negative Mutated 5.7%, VH 2-26 13q− None Survival 
CLL 2 72/F Rai 0 Negative ND Mutated 5.5%, VH 3-53 Normal None Survival 
CLL 3 90/M Rai I Positive Positive Mutated 3.3%, VH 3-07 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 4 47/F Rai I Negative Negative Unmutated 1.4%, VH1-02 Normal None Survival and reporter assay 
CLL 5 90/M ND Negative Negative Mutated 6%, VH 6-0 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 6 76/M Rai 0 Positive Negative Mutated 3.1%, VH 3-15 Normal None Survival and reporter assay 
CLL 7 75/M ND Negative Negative Mutated 12.9%, VH 4-4 17p−, 13q−, +12 Yes Survival and reporter assay 
CLL 8 74/M Rai I Negative Negative Mutated 2.9%, VH 3-23 11q−, 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 9 60/M Rai II Negative Negative Unmutated 0.8%, VH 4-04 13q− None Survival, reporter assay, β-catenin Western blot 
CLL 10 61/M Rai I Negative Positive Mutated 41%, VH 4-61 13q− None Reporter assay, β-catenin Western blot 
CLL 11 79/F ND Negative Negative Unmutated 0%, VH 4-39 13q− None Reporter assay 
CLL 12 54/M ND Negative Positive Unmutated 0%, VH1-69 11q− Yes Reporter assay 
CLL 13 57/M Rai 0 Negative Negative Mutated 8.2%, VH 3-23 13q− None Reporter assay, β-catenin Western blot 
CLL 14 67/M Rai II Negative Negative Mutated 5.7%, VH 3-09 13q− None Reporter assay 
CLL 15 79/M ND Positive Positive Unmutated 0%, VH 1-02 +12 None Reporter assay 
CLL 16 55/M ND Negative Positive Mutated 2.6%, VH 3-23 13q− None Reporter assay 
CLL 17 56/M Rai 0 Negative Negative Mutated 7.1%, VH 3-11 Normal None Reporter assay 
CLL 18 57/F Rai I Negative Positive Unmutated ?, VH ? 11q None Reporter assay 
CLL 19 53/F Rai 0 Negative Negative Mutated 8.3%, VH 3-64 13q− None Long-term culture LEF quantitative PCR 
CLL 20 57/F Rai 0 Negative Positive Unmutated 0%, VH 3-33 13q− None Long-term culture LEF quantitative PCR 
CLL 21 60/M Rai 0 Negative Negative Mutated 7.5%, VH 2-05 13q− None IGFBP4 ELISA 
CLL 22 63/F ND ND ND ND 13q− Unknown IGFBP4 ELISA 
CLL 23 Unknown ND ND ND ND ND Unknown IGFBP4 ELISA 
CLL 24 70/F Rai III Negative Negative Mutated 8.6%, VH 4-04 13q− None IGFBP4 ELISA 
CLL 25 79/M Rai I Positive Positive Unmutated 0%, VH 1-02 +12 None IGFBP4 ELISA 
CLL 26 64/M Rai 0 Negative Negative Mutated 11.1%, VH 4-4 13q− None IGFBP4 ELISA 
CLL 27 54/M Rai I Negative Negative Mutated 23.1%, VH 4-6 13q− None LEF flow cytometry 
CLL 28 61/M Rai IV Negative Negative ND 13q− None LEF flow cytometry and Wnt genes quantitative PCR 
CLL 29 43/M ND Negative Positive Unmutated 0%, VH 2-70 Normal None LEF flow cytometry and Wnt genes quantitative PCR 
CLL 30 72/F Rai II Positive Positive Mutated 3%, VH 3-30 13q− None Wnt genes quantitative PCR 
CLL 31 76/M Rai III Positive ND Unmutated 0%, VH 3-30 +12 None Wnt genes quantitative PCR 
CLL 32 66/M Rai 0 Negative ND Mutated 7.6%, VH 4-59 13q− None Wnt genes quantitative PCR 
CLL 33 68/M Rai IV Positive Positive Unmutated 0%, VH1-69 6q− None Wnt genes quantitative PCR 
CLL 34 49/F Rai 0 Negative Negative Mutated 9.7%, VH 4-28 13q− None Wnt genes quantitative PCR 
CLL 35 74/F Rai III Negative ND Unmutated 0%, VH1-69 +12 None Wnt genes quantitative PCR 
CLL 36 61/M Rai 0 Negative Positive Unmutated 0.8%, VH4-59 +12 None LEF Western blot 
CLL 37 68/M Rai I Negative Positive Unmutated 0%, VH1-69 Normal None LEF Western blot 
CLL 38 60/F Rai 0 Negative Negative Mutated 10.1%, VH 1-46 13q− None LEF Western blot 
CLL 39 49/M Rai I ND ND Mutated 6.8%, VH 3-23 13q− None LEF Western blot 
CLL 40 65/M Rai I Negative Negative Mutated 12.7%, VH 3-15 13q−, t(14;18) None LEF Western blot 
CLL 41 75/M Rai III Negative Negative Mutated 5.4%, VH 4-34 Normal None LEF Western blot 
CLL 42 59/M Rai I Positive Positive Unmutated 0.7%, VH1-24 13q− None LEF Western blot 

CD38+ samples have > 30% positive cells. ZAP-70+ samples have > 20% positive cells. For MBL patients, absolute B-cell counts are as follows: MBL 1, 2.4 × 109/L; MBL 2, 1.7 × 109/L; MBL 3, 1.1 × 109/L; MBL 4, 2.4 × 109/L; MBL 5, 2.0 × 109/L; MBL 6, 0.7 × 109/L; MBL 7, 1.9 × 109/L; MBL 8, 1.5 × 109/L.

F indicates female; M, male; and ND, not determined.

*

Mutated immunoglobulin heavy chain is > 2% different from germline VH.

Poor prognostic factor.

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