Revised taxonomy of AYA/adults with Ph− B-ALL
| . | All (n = 323) . | AYA (n = 176) . | Adult (n = 147) . | . | . | |||
|---|---|---|---|---|---|---|---|---|
| Subtype . | n . | Frequency (%) . | n . | Frequency (%) . | n . | Frequency (%) . | Class . | Criteria . |
| ZNF384 | 73 | 22.6 | 38 | 21.6 | 35 | 23.8 | A | ZNF384 rearrangements |
| TCF3-PBX1 | 29 | 9.0 | 18 | 10.2 | 11 | 7.5 | A | TCF3-PBX1 fusion |
| DUX4 | 24 | 7.4 | 19 | 10.8 | 5 | 3.4 | A | DUX4 rearrangements |
| MEF2D | 17 | 5.3 | 13 | 7.4 | 4 | 2.7 | A | MEF2D rearrangements |
| KMT2A | 14 | 4.3 | 10 | 5.7 | 4 | 2.7 | A | KMT2A rearrangements |
| BCL2/MYC | 6 | 1.9 | 1 | 0.6 | 5 | 3.4 | A | BCL2, MYC, or BCL6 rearrangements |
| ETV6-RUNX1 | 2 | 0.6 | 2 | 1.1 | 0 | 0.0 | A | ETV6-RUNX1 fusion |
| High-hyperdiploid | 9 | 2.8 | 4 | 2.3 | 5 | 3.4 | B | Chromosome number 51-67 |
| Low-hypodiploid | 6 | 1.9 | 0 | 0.0 | 6 | 4.1 | B | Chromosome number 31-39 |
| Near-haploid | 1 | 0.3 | 1 | 0.6 | 0 | 0.0 | B | Chromosome number 24-30 |
| Ph-like | 51 | 15.8 | 22 | 12.5 | 29 | 19.7 | C | Hierarchical gene expression profile cluster enriched with BCR-ABL1; no BCR-ABL1 fusion |
| CDX2-high | 11 | 3.4 | 7 | 4.0 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with high expression of CDX2 and gain (1q) |
| PAX5alt | 10 | 3.1 | 6 | 3.4 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with PAX5 alterations |
| ZNF384-like | 7 | 2.2 | 5 | 2.8 | 2 | 1.4 | C | Hierarchical gene expression profile cluster enriched with ZNF384 fusions; no ZNF384 rearrangements |
| IDH1/2-mut | 6 | 1.9 | 2 | 1.1 | 4 | 2.7 | C | IDH1 R132C or IDH2 R140Q mutations; clustered with IDH1/2-mut subtype or unclustered with any established subtypes |
| CEBP/ZEB2 | 4 | 1.2 | 2 | 1.1 | 2 | 1.4 | C | Hierarchical gene expression profile cluster enriched with CEBP family (CEBPA, CEBPB, CEBPD, CEBPE) rearrangements and ZEB2 H1038R alterations |
| Low-hyperdiploid | 4 | 1.2 | 0 | 0.0 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with high-hyperdiploid; chromosome number 47-50 |
| PAX5 P80R | 4 | 1.2 | 2 | 1.1 | 2 | 1.4 | C | PAX5 P80R alterations or clustered with PAX5 P80R subtype |
| Other | 45 | 13.9 | 24 | 13.6 | 21 | 14.3 | — | — |
| . | All (n = 323) . | AYA (n = 176) . | Adult (n = 147) . | . | . | |||
|---|---|---|---|---|---|---|---|---|
| Subtype . | n . | Frequency (%) . | n . | Frequency (%) . | n . | Frequency (%) . | Class . | Criteria . |
| ZNF384 | 73 | 22.6 | 38 | 21.6 | 35 | 23.8 | A | ZNF384 rearrangements |
| TCF3-PBX1 | 29 | 9.0 | 18 | 10.2 | 11 | 7.5 | A | TCF3-PBX1 fusion |
| DUX4 | 24 | 7.4 | 19 | 10.8 | 5 | 3.4 | A | DUX4 rearrangements |
| MEF2D | 17 | 5.3 | 13 | 7.4 | 4 | 2.7 | A | MEF2D rearrangements |
| KMT2A | 14 | 4.3 | 10 | 5.7 | 4 | 2.7 | A | KMT2A rearrangements |
| BCL2/MYC | 6 | 1.9 | 1 | 0.6 | 5 | 3.4 | A | BCL2, MYC, or BCL6 rearrangements |
| ETV6-RUNX1 | 2 | 0.6 | 2 | 1.1 | 0 | 0.0 | A | ETV6-RUNX1 fusion |
| High-hyperdiploid | 9 | 2.8 | 4 | 2.3 | 5 | 3.4 | B | Chromosome number 51-67 |
| Low-hypodiploid | 6 | 1.9 | 0 | 0.0 | 6 | 4.1 | B | Chromosome number 31-39 |
| Near-haploid | 1 | 0.3 | 1 | 0.6 | 0 | 0.0 | B | Chromosome number 24-30 |
| Ph-like | 51 | 15.8 | 22 | 12.5 | 29 | 19.7 | C | Hierarchical gene expression profile cluster enriched with BCR-ABL1; no BCR-ABL1 fusion |
| CDX2-high | 11 | 3.4 | 7 | 4.0 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with high expression of CDX2 and gain (1q) |
| PAX5alt | 10 | 3.1 | 6 | 3.4 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with PAX5 alterations |
| ZNF384-like | 7 | 2.2 | 5 | 2.8 | 2 | 1.4 | C | Hierarchical gene expression profile cluster enriched with ZNF384 fusions; no ZNF384 rearrangements |
| IDH1/2-mut | 6 | 1.9 | 2 | 1.1 | 4 | 2.7 | C | IDH1 R132C or IDH2 R140Q mutations; clustered with IDH1/2-mut subtype or unclustered with any established subtypes |
| CEBP/ZEB2 | 4 | 1.2 | 2 | 1.1 | 2 | 1.4 | C | Hierarchical gene expression profile cluster enriched with CEBP family (CEBPA, CEBPB, CEBPD, CEBPE) rearrangements and ZEB2 H1038R alterations |
| Low-hyperdiploid | 4 | 1.2 | 0 | 0.0 | 4 | 2.7 | C | Hierarchical gene expression profile cluster enriched with high-hyperdiploid; chromosome number 47-50 |
| PAX5 P80R | 4 | 1.2 | 2 | 1.1 | 2 | 1.4 | C | PAX5 P80R alterations or clustered with PAX5 P80R subtype |
| Other | 45 | 13.9 | 24 | 13.6 | 21 | 14.3 | — | — |
Classes defined by: (A) gene rearrangements; (B) CNVs; (C) integration of expression profile and genetic alterations (rearrangements, CNVs, and mutations).