Clinical and molecular data for the CLL patients included
| CLL sample . | Percent identity* . | Age at diagnosis, y . | Sex . | Survival, mo† . | Binet stage . | Treated before sampling‡ . | Genomic aberrations§ . |
|---|---|---|---|---|---|---|---|
| IGHV mutated | |||||||
| M1 | 94.6 | 63 | M | 195¶ | A | No | del(13q)3 |
| M2 | 91.5 | 74 | M | 55 | A | No | del(13q)1 |
| M3‖ | 93.2 | 72 | M | 129¶ | A | ND | None3 |
| M4 | 94.1 | 70 | M | 134¶ | A | No | del(13q)3 |
| M5 | 91.3 | 65 | M | 104¶ | A | No | del(13q)1 |
| M6 | 91.1 | 64 | F | 94¶ | A | No | None3 |
| IGHV unmutated | |||||||
| UM1 | 100.0 | 49 | M | 99 | A | Yes | del(11q)3 |
| UM2 | 100.0 | 44 | M | 84 | B | ND | del(11q)3 |
| UM3 | 100.0 | 79 | M | 10 | B | No | ND |
| UM4 | 100.0 | 82 | F | 50 | B | No | ND |
| UM5 | 100.0 | 57 | M | 49 | B | No | del(13q)1 |
| UM6 | 100.0 | 69 | M | 24 | C | No | None3 |
| UM7 | 100.0 | 51 | M | 112¶ | A | No | None1 |
| IGHV3-21 | |||||||
| 3-21-1 | 100.0 | 45 | F | 58 | ND | ND | +122 |
| 3-21-2 | 100.0 | 63 | M | 58 | C | No | del(13q), del(11q)1 |
| 3-21-3 | 96.50# | 61 | M | 52 | C | No | del(13q),del(11q)1 |
| 3-21-4 | 96.9# | 62 | F | 67 | ND | No | del (13q)2 |
| 3-21-5 | 100.0 | 65 | F | 52 | ND | Yes | del(17p),+121 |
| 3-21-6 | 98.7# | 67 | M | ND | ND | ND | del(13q),del(11q)1 |
| 3-21-7 | 96.49# | 63 | M | ND | ND | ND | del(13q)3 |
| 3-21-8 | 95.5# | 60 | M | 72 | B | No | None1 |
| 3-21-9 | 96.8# | 62 | M | 111 | ND | ND | del(13q)2 |
| 3-21-10 | 97.4# | 76 | M | 82 | A | No | del(13q), del(11q)2 |
| CLL sample . | Percent identity* . | Age at diagnosis, y . | Sex . | Survival, mo† . | Binet stage . | Treated before sampling‡ . | Genomic aberrations§ . |
|---|---|---|---|---|---|---|---|
| IGHV mutated | |||||||
| M1 | 94.6 | 63 | M | 195¶ | A | No | del(13q)3 |
| M2 | 91.5 | 74 | M | 55 | A | No | del(13q)1 |
| M3‖ | 93.2 | 72 | M | 129¶ | A | ND | None3 |
| M4 | 94.1 | 70 | M | 134¶ | A | No | del(13q)3 |
| M5 | 91.3 | 65 | M | 104¶ | A | No | del(13q)1 |
| M6 | 91.1 | 64 | F | 94¶ | A | No | None3 |
| IGHV unmutated | |||||||
| UM1 | 100.0 | 49 | M | 99 | A | Yes | del(11q)3 |
| UM2 | 100.0 | 44 | M | 84 | B | ND | del(11q)3 |
| UM3 | 100.0 | 79 | M | 10 | B | No | ND |
| UM4 | 100.0 | 82 | F | 50 | B | No | ND |
| UM5 | 100.0 | 57 | M | 49 | B | No | del(13q)1 |
| UM6 | 100.0 | 69 | M | 24 | C | No | None3 |
| UM7 | 100.0 | 51 | M | 112¶ | A | No | None1 |
| IGHV3-21 | |||||||
| 3-21-1 | 100.0 | 45 | F | 58 | ND | ND | +122 |
| 3-21-2 | 100.0 | 63 | M | 58 | C | No | del(13q), del(11q)1 |
| 3-21-3 | 96.50# | 61 | M | 52 | C | No | del(13q),del(11q)1 |
| 3-21-4 | 96.9# | 62 | F | 67 | ND | No | del (13q)2 |
| 3-21-5 | 100.0 | 65 | F | 52 | ND | Yes | del(17p),+121 |
| 3-21-6 | 98.7# | 67 | M | ND | ND | ND | del(13q),del(11q)1 |
| 3-21-7 | 96.49# | 63 | M | ND | ND | ND | del(13q)3 |
| 3-21-8 | 95.5# | 60 | M | 72 | B | No | None1 |
| 3-21-9 | 96.8# | 62 | M | 111 | ND | ND | del(13q)2 |
| 3-21-10 | 97.4# | 76 | M | 82 | A | No | del(13q), del(11q)2 |
ND indicates not defined.
IGHV gene analysis was performed using PCR amplification and nucleotide sequencing as previously described.13 Cases with ≥ 98% identity to germline were classified as unmutated, whereas cases with < 98% identity were considered mutated. IGHV3-21 cases were classified as stereotyped (#) or nonstereotyped according to Murray et al.13
indicates months from diagnosis to last observation or death; and ¶ indicates that the patient is alive.
denotes treatment status before sampling; yes indicates that the patient was treated before sampling; and no indicates that the patient remained untreated.
Known recurrent aberrations, that is, del(13q), del(11q), del(17p) and trisomy 12, were determined using fluorescence in situ hybridization (FISH) analysis (1), SNP-array analysis (2) or quantitative PCR analysis (3). FISH analysis was performed using commercially available probes as decribed previously,14 whereas single nucleotide polymorphism (SNP) array analysis was performed using high-resolution Affymetrix 250K SNP arrays from which data on known recurrent genomic aberrations were extracted.14 Quantitative PCR was performed by applying specifically designed primers for each locus (primers available on request) using the SYBR Green master mix according to the manufacturer's protocol (Fermentas). Copy-number changes were normalized against a copy-number neutral internal control region and ratios relative to the DNA copy number from a pooled control (Promega) were tallied for each locus.
A second mutated, in-frame IGHV gene rearrangement (92% identity) was also detected in this case.