Table 1.
| Molecular Subtype | Frequency | Prognosis | Specific Immunophenotypic Features |
|---|---|---|---|
| High hyperdiploid (>50 chromosomes) | 25% children; 3% AYA and adults | Favorable | CD123pos [15], CD66c pos [16] |
| ETV6-RUNX1 t(12;21)(p13;q22) | 30% children; <5% AYA and adults | Favorable | CD66c neg, CD10pos, CD25neg, CD44 neg [17,18] |
| DUX4 and ERG-deregulated ALL | 5–10% acute lymphoblastic leukemia | Favorable | none |
| TCF3-PBX1, t(1;19) (q23;p13) | 5% in children, rare in adults | Favorable | CD10pos, CD38pos, CD34 neg [18] |
| Internal amplification of chromosome 21 (iAMP21) | 3% in children and AYA | Favorable with intensive therapy | none |
| NUTM1-rearranged | Exclusively in children (1%) | Favorable | NG2 pos [19] |
| PAX5 alterations (fusion, mutation, amplification) | Highest in children (11%) | Intermediate | none |
| ZNF384-rearranged | 5% children; 10% AYA and adults | Intermediate | CD10 weak/neg. CD13 pos, CD33 pos [20] |
| PAX5 P80R | Highest in adults (4%) | Intermediate | none |
| KMT2A-rearranged | High in infants (90%) and adults (15%) | Poor | NG2 pos [21], CD38pos, CD10neg [18] |
| BCR–ABL1, Philadelphia chromosome [Ph], t(9;22) (q34;q11) | 2–5% children, 6% AYA; >25% adults | Poor | CD66c pos, CD9 pos, CD 123pos, CD34 pos [18] |
| Philadelphia chromosome-like acute lymphoblastic leukemia | 10% children; 25–30% AYA; 20% adults | Poor | TLSPR pos [22] |
| Low-hypodiploid (32–39 chromosomes) | 10% adults; 5% AYA and >10% adults | Very poor | none |
| BCL2/MYC rearranged | 3% AYA and adults | Poor | CD44 neg [23] |
| Near-haploid (24–31 chromosomes) | 2% children; <1% AYA and adults | Poor | none |
| MEF2D-rearranged | 4% children; 7% AYA and adults | Poor | CD10 neg CD38 pos [24] |
| TCF3-HLF t(17;19) (q22;p13) | <1% ALL | Poor | none |
| ETV6-RUNX1-like | 3% in children | Unknown | none |
| IKZF1 N159Y | <1% in all ages | Unknown | none |
Abbreviations: AYA, adolescents and young adults; BCL2/MYC, BCL2 Apoptosis Regulator/MYC Proto-Oncogene; DUX4, Double Homeobox 4; ETV6-RUNX1, ETS Variant Transcription Factor 6—RUNX Family Transcription Factor 1; ERG, ETS Transcription Factor ERG; IKZF1, IKAROS Family Zinc Finger 1; KMT2A, Lysine Methyltransferase 2A; MEF2D, Myocyte Enhancer Factor 2D; NG2, Neural/glial antigen 2; NUTM1, NUT Midline Carcinoma Family Member 1; PAX5, Paired Box 5; TCF3-PBX1, Transcription Factor 3—Pre-B-Cell Leukemia Transcription Factor 1; TCF3-HLF, Transcription Factor 3—Hepatic Leukemia Factor; TLSPR, thymic stromal lymphopoietin receptor; ZNF384, Zinc Finger Protein 384.