Molecular characteristics of the RS series
| Characteristic . | Whole series . | Clonally related . | Clonally unrelated . | Undetermined clonal relationship . | ||||
|---|---|---|---|---|---|---|---|---|
| n/N . | % . | n/N . | % . | n/N . | % . | n/N . | % . | |
| Genetic features | ||||||||
| TP53 disruption* | 40/85 | 47.1 | 30/50 | 60.0 | 3/13 | 23.1 | 7/22 | 31.8 |
| c-MYC aberrations | 16/61 | 26.2 | 10/36 | 27.8 | 3/10 | 30.0 | 3/15 | 20.0 |
| Deletions | ||||||||
| 17p13 deletion | 28/86 | 32.6 | 20/50 | 40.0 | 3/13 | 23.1 | 5/23 | 21.7 |
| 11q22-q23 deletion | 8/53 | 15.1 | 4/31 | 12.9 | 2/11 | 18.2 | 2/11 | 18.2 |
| 13q14 deletion | 7/53 | 13.2 | 7/33 | 21.3 | 0/8 | 0 | 0/12 | 0 |
| 6q21 deletion | 4/50 | 8.0 | 2/31 | 6.5 | 0/7 | 0 | 2/12 | 16.7 |
| Translocations | ||||||||
| c-MYC translocation | 10/61 | 16.4 | 8/36 | 22.2 | 1/10 | 10.0 | 1/15 | 6.7 |
| BCL3 translocation | 1/46 | 2.2 | 1/26 | 3.8 | 0/9 | 0 | 0/11 | 0 |
| BCL6 translocation | 1/59 | 1.7 | 1/35 | 2.9 | 0/10 | 0 | 0/14 | 0 |
| BCL2 translocation | 0/60 | 0 | 0/35 | 0 | 0/9 | 0 | 0/16 | 0 |
| Amplifications | ||||||||
| c-MYC amplification | 6/61 | 9.8 | 2/36 | 5.6 | 2/10 | 20.0 | 2/15 | 13.3 |
| REL amplification | 4/39 | 10.3 | 3/24 | 12.5 | 0/6 | 0 | 1/9 | 11.1 |
| BCL2 amplification | 5/59 | 8.5 | 3/34 | 8.8 | 1/9 | 11.1 | 1/16 | 6.3 |
| BCL11A amplification | 2/25 | 8.0 | 2/17 | 11.8 | 0/3 | 0 | 0/5 | 0 |
| MYCN amplification | 2/54 | 3.7 | 2/31 | 6.5 | 0/8 | 0 | 0/15 | 0 |
| Trisomy 12 | 9/61 | 14.8 | 5/35 | 14.3 | 2/11 | 18.2 | 2/15 | 13.3 |
| Mutations | ||||||||
| TP53 mutation* | 31/85 | 36.4 | 23/50 | 46.0 | 2/13 | 15.4 | 6/22 | 27.3 |
| RhoH/TTF mutation | 4/28 | 14.3 | 4/25 | 16.0 | 0/1 | 0 | 0/2 | 0 |
| PIM1 mutation | 3/28 | 10.7 | 3/25 | 12.0 | 0/1 | 0 | 0/2 | 0 |
| PAX5 mutation | 2/28 | 7.1 | 2/25 | 8.0 | 0/1 | 0 | 0/2 | 0 |
| c-MYC mutation | 1/28 | 3.6 | 1/25 | 4.0 | 0/1 | 0 | 0/2 | 0 |
| BCL6 exon 1 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CARD11 mutation | 4/78 | 5.1 | 2/44 | 4.5 | 0/12 | 0 | 2/22 | 9.1 |
| PRDM1 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| TNFAIP3/A20 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CD79A mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CD79B mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| EZH2 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| Immunogenetic features | ||||||||
| IGHV identity ≥ 98% | 55/85 | 64.7 | 36/50 | 72.0 | 5/13 | 38.5 | 14/22 | 63.6 |
| Stereotyped VH CDR3* | 31/85 | 36.4 | 25/50 | 50.0 | 1/13 | 7.6 | 5/22 | 22.7 |
| Characteristic . | Whole series . | Clonally related . | Clonally unrelated . | Undetermined clonal relationship . | ||||
|---|---|---|---|---|---|---|---|---|
| n/N . | % . | n/N . | % . | n/N . | % . | n/N . | % . | |
| Genetic features | ||||||||
| TP53 disruption* | 40/85 | 47.1 | 30/50 | 60.0 | 3/13 | 23.1 | 7/22 | 31.8 |
| c-MYC aberrations | 16/61 | 26.2 | 10/36 | 27.8 | 3/10 | 30.0 | 3/15 | 20.0 |
| Deletions | ||||||||
| 17p13 deletion | 28/86 | 32.6 | 20/50 | 40.0 | 3/13 | 23.1 | 5/23 | 21.7 |
| 11q22-q23 deletion | 8/53 | 15.1 | 4/31 | 12.9 | 2/11 | 18.2 | 2/11 | 18.2 |
| 13q14 deletion | 7/53 | 13.2 | 7/33 | 21.3 | 0/8 | 0 | 0/12 | 0 |
| 6q21 deletion | 4/50 | 8.0 | 2/31 | 6.5 | 0/7 | 0 | 2/12 | 16.7 |
| Translocations | ||||||||
| c-MYC translocation | 10/61 | 16.4 | 8/36 | 22.2 | 1/10 | 10.0 | 1/15 | 6.7 |
| BCL3 translocation | 1/46 | 2.2 | 1/26 | 3.8 | 0/9 | 0 | 0/11 | 0 |
| BCL6 translocation | 1/59 | 1.7 | 1/35 | 2.9 | 0/10 | 0 | 0/14 | 0 |
| BCL2 translocation | 0/60 | 0 | 0/35 | 0 | 0/9 | 0 | 0/16 | 0 |
| Amplifications | ||||||||
| c-MYC amplification | 6/61 | 9.8 | 2/36 | 5.6 | 2/10 | 20.0 | 2/15 | 13.3 |
| REL amplification | 4/39 | 10.3 | 3/24 | 12.5 | 0/6 | 0 | 1/9 | 11.1 |
| BCL2 amplification | 5/59 | 8.5 | 3/34 | 8.8 | 1/9 | 11.1 | 1/16 | 6.3 |
| BCL11A amplification | 2/25 | 8.0 | 2/17 | 11.8 | 0/3 | 0 | 0/5 | 0 |
| MYCN amplification | 2/54 | 3.7 | 2/31 | 6.5 | 0/8 | 0 | 0/15 | 0 |
| Trisomy 12 | 9/61 | 14.8 | 5/35 | 14.3 | 2/11 | 18.2 | 2/15 | 13.3 |
| Mutations | ||||||||
| TP53 mutation* | 31/85 | 36.4 | 23/50 | 46.0 | 2/13 | 15.4 | 6/22 | 27.3 |
| RhoH/TTF mutation | 4/28 | 14.3 | 4/25 | 16.0 | 0/1 | 0 | 0/2 | 0 |
| PIM1 mutation | 3/28 | 10.7 | 3/25 | 12.0 | 0/1 | 0 | 0/2 | 0 |
| PAX5 mutation | 2/28 | 7.1 | 2/25 | 8.0 | 0/1 | 0 | 0/2 | 0 |
| c-MYC mutation | 1/28 | 3.6 | 1/25 | 4.0 | 0/1 | 0 | 0/2 | 0 |
| BCL6 exon 1 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CARD11 mutation | 4/78 | 5.1 | 2/44 | 4.5 | 0/12 | 0 | 2/22 | 9.1 |
| PRDM1 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| TNFAIP3/A20 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CD79A mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| CD79B mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| EZH2 mutation | 0/78 | 0 | 0/44 | 0 | 0/12 | 0 | 0/22 | 0 |
| Immunogenetic features | ||||||||
| IGHV identity ≥ 98% | 55/85 | 64.7 | 36/50 | 72.0 | 5/13 | 38.5 | 14/22 | 63.6 |
| Stereotyped VH CDR3* | 31/85 | 36.4 | 25/50 | 50.0 | 1/13 | 7.6 | 5/22 | 22.7 |
IGHV indicates immunoglobulin heavy chain variable region gene; and VH CDR3, immunoglobulin heavy chain complementarity-determining region 3.
Molecular features with significantly different prevalence between clonally related and clonally unrelated RS.