Table 3.
Provisional entities in B-ALL
| Subtype | Frequency | Genomics |
|---|---|---|
| ETV6::RUNX1-like | <5%, mostly children; worse prognosis than ETV6::RUNX1 | Fusions or CNAs in ETS family genes including ETV6, FUS and also IKZF1; some cases harbor germline loss-of-function ETV6 mutations |
| PAX5 altered (PAX5alt) | 10% of children and adults | Various mutations (especially compound heterozygosity for R38;R140), intragenic amplifications, and non-kinase fusions (ETV6 most common); CDKN2A co-mutations common |
| ZEB2 H1038R/IGH::CEBPE | < 1% | ZEB2 H1038R or IGH::CEBPE; Frequent NRAS mutations (50%), LMO1 upregulation and downregulation of SMAD1 and BMP2 |
| KMT2A-like | <1% | Some with HOXA fusions |
| ZNF384-like | <1% | Many with alternate ZNF362-r; others unknown |