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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Best Pract Res Clin Haematol. 2020 Jun 7;33(3):101193. doi: 10.1016/j.beha.2020.101193

Table 1.

Characteristics of each BCP-ALL subtype.

Molecular subtype Category Median age (yrs) Peak prevalence Genomic alterations Characteristics Ref
High hyperdiploid (51–67 chromosomes) Aneuploid 4 Children (25%) Ras pathway, epigenetic modifiers

  • Excellent prognosis

  • Association of CREBBP mutations with relapse

 [11]
Low hypodiploid (32–39 chromosomes) Aneuploid 47 Adults (10–15%) IKZF2 deletion, biallelic TP53 alterations

  • Poor prognosis

  • TP53 alterations are commonly inherited in children, but not in adult

 [14]
Near haploid (24–31 chromosomes) Aneuploid 5.4 < 3% in all ages Ras pathway (NF1), IKZF3 deletions

  • Intermediate prognosis

  • No loss of chromosome 21 is observed

 [14]
iAMP21 Copy number gain 10 < 3% in children and AYA Gain of three or more extra copies of a region of chromosome 21 including RUNX1

  • Good prognosis with intensive therapy

  • Low WBC at diagnosis

  • The germline Robertsonian translocation rob(15;21) or a germline ring chromosome 21 are reported to increase the risk of iAMP21

 [21]
ETV6-RUNX1 TF rearrangement 4 Children (25%) deletion of the non-rearranged ETV6 allele, PAX5 deletions, WHSC1 mutations

  • Excellent prognosis

  • Expression of CD27 and low/negative expression of CD44

  • Acquired in utero

 [26,28]
ETV6-RUNXHike ALL TF rearrangement 3 Children (3%) Alterations (fusions/deletions) in ETV6, IKZF1, TCF3

  • Intermediate to favorable prognosis

  • Similar gene expression profile to ETV6-RUNX1 ALL

  • Expression of CD27 and low/negative expression of CD44

 [7,25,31]
TCF3-PBX1 TF rearrangement 8 Children (8%)

  • Good prognosis

  • pre-B immunophenotype

 [7,33]
TCF3-HLF TF rearrangement 15 < 1% in all ages PAX5 deletions, Ras pathway

  • Very poor prognosis

 [7,33]
KMT2A-rearranged TF rearrangement 40 Infants (80%) and adults (15%) Ras pathway (subclonal), PI3K pathway

  • Poor prognosis

  • Relation to therapy-related leukemia (topoisomerase II inhibitors)

  • Acquired in utero (infant ALL)

 [37]
BCR-ABL1 (Ph+) Kinase driven 40–45 Adults (40–50%) IKZF1 alterations, CDKN2AIB deletions

  • Prognosis improved with TKI

 [41,51,10]
Ph-like Kinase driven 21 AYA (25–30%) Multiple kinase alterations, IKZF1 alterations, CDKN2AIB deletions

  • Poor prognosis, amenable to TKI therapy

  • Similar gene expression profile to BCR-ABL1 ALL

 [41,51]
DUX4-rearranged TF rearrangement 14.3 AYA (8%) ERG deletions (polyclonal), IKZF1 deletions, Ras pathway

  • Excellent prognosis

  • Distinct immunophenotype (CD2 and CD371 positive)

 [60–62]
MEF2D-rearranged TF rearrangement 14 AYA (7%) Ras pathway

  • Intermediate to unfavorable prognosis

  • Low or absent expression of CD10 and high expression of CD38

 [64,66]
ZNF384-rearranged TF rearrangement 15 AYA (5%) Ras pathway, epigenetic modifiers

  • Peak age of onset and prognosis varies by fusion partners

  • Low CD 10 expression and aberrant CD13 and/or CD33 expression

  • Frequently found in B/M MPAL

 [61,69,70]
PAX5alt Other TF driven 10 Children (10%) PAX5 rearrangements

  • Intermediate prognosis

  • Loss of heterozygosity or acquisition of compound heterozygosity of PAX5

 [7]
PAX5 P80R Other TF driven 22 Adults (4%) Ras pathway, JAK-STAT pathway

  • Intermediate to favorable prognosis

  • Association with dic(9:20)

 [7]
NUTM1-rearranged TF rearrangement 3 Children (l%)

  • Excellent prognosis

 [7]
IKZF1 N159Y Other TF driven < 1% in all ages Gain of whole chromosome 21

  • Retain non- mutated wild type allele of IKZF1

 [7]
BCL2/MYC-rearranged Other TF driven 48 AYA and adults (3%)

  • Poor prognosis

 [7]