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. Author manuscript; available in PMC: 2023 Nov 14.
Published in final edited form as: Virchows Arch. 2022 Nov 24;482(1):11–26. doi: 10.1007/s00428-022-03448-8

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