Table 1.
Summary of clinical and molecular characteristics of the discovery cohort
| Variable and level | BLGSP (n = 91) | ICGC (n = 15) | Total (n = 106) |
|---|---|---|---|
| Clinical variant | |||
| Endemic BL | 74 (81%) | 0 (0%) | 74 (70%) |
| Sporadic BL | 17 (19%) | 15 (100%) | 32 (30%) |
| EBV status | |||
| EBV-positive | 71 (78%) | 0 (0%) | 71 (67%) |
| EBV-negative | 20 (22%) | 15 (100%) | 35 (33%) |
| Age group, y | |||
| 0-5 | 21 (23%) | 6 (40%) | 27 (25%) |
| 6-10 | 50 (55%) | 5 (33%) | 55 (52%) |
| 11-15 | 18 (20%) | 2 (13%) | 20 (19%) |
| 16-20 | 2 (2%) | 2 (13%) | 4 (4%) |
| Tumor biopsy | |||
| FF | 88 (97%) | 15 (100%) | 103 (97%) |
| FFPE | 3 (3%) | 0 (0%) | 3 (3%) |
| IG-MYC translocations | |||
| IGH-MYC | 74 (81%) | 11 (73%) | 85 (80%) |
| IGL-MYC | 8 (9%) | 3 (20%) | 11 (10%) |
| IGK-MYC | 7 (8%) | 1 (7%) | 8 (8%) |
| Other | 2 (2%) | 0 (0%) | 2 (2%) |
| Expressed IG isotype | |||
| IgM | 63 (69%) | 0 (0%) | 63 (59%) |
| IgG | 11 (12%) | 0 (0%) | 11 (10%) |
| Undetectable | 17 (19%) | 15 (100%) | 32 (30%) |
| Anatomic site | |||
| Head-only disease | 29 (32%) | 0 (0%) | 29 (27%) |
| Intra-abdominal disease | 16 (18%) | 0 (0%) | 16 (15%) |
| Disseminated disease (no BM/CNS involvement) | 36 (40%) | 0 (0%) | 36 (34%) |
| Disseminated disease (BM/CNS involvement) | 8 (9%) | 0 (0%) | 8 (8%) |
| Unknown | 2 (2%) | 15 (100%) | 17 (16%) |
All cases were HIV-negative. Cases from the BLGSP and the ICGC project are shown separately. The IG isotype was not determined for the ICGC cases because the ICGC tumor RNA-seq data were not analyzed. BM, bone marrow; CNS, central nervous system; FF, fresh frozen tissue; FFPE, formalin-fixed paraffin-embedded tissue.