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. 2021 Sep 9;2(6):586–599. doi: 10.1158/2643-3230.BCD-21-0049

Table 1.

Biological subtypes identified in pediatric AML cases

Subtype Immunophenotypes across the entire cohort (N)a Proposed risk status based on overall survival (reference)b,c
AMTL AML (12), MPAL (30), AUL (1), ETP (19)
  • FLT3-ITD mutation present: low

  • PRC2 mutation present: high

CEBPA (mono-and biallelic) AML (28), MPAL (3)
  • pLSC6 medium or high: high

  • pLSC6 low: low (41)

RUNX1–RUNX1T1 AML (27)
  • PRC2/KIT double-mutant present: high

  • pLSC6 medium or high: high

  • PRC2/KIT double-mutant absent and pLSC6 low: low (42)

CBFB–MYH11 AML (34)
  • PRC2/KIT double-mutant present: high

  • pLSC6 medium or high: high

  • PRC2/KIT double-mutant absent and pLSC6 low: low (42)

MNX1-r AML (3), AMKLd, AUL (1)
ETS-r AML (10), AMKL (1) MPAL (2)
CBFA2T3–GLIS2 AML (2), AMKL (11)
KMT2A-r AML (56), AMKL (10), MPAL (9), AUL (2), ETP (1)
  • MK-V: high

  • AMKL: high (4)

  • pLSC6 medium or high: high

  • MK-V absent and AMKL absent, and pLSC6 low: intermediate (42)

GATA1 AML (3), AMKL (6), MPAL (1)
  • pLSC6 medium or high: high

  • pLSC6 low: low (4)

HOX-r AML (2), AMKL (13)
  • pLSC6 medium or high: high

  • pLSC6 low: low (4)

NUP98-r AML (17), AMKL (6), ETP (3)
NPM1 AML (25)
  • pLSC6 medium or high: high

  • pLSC6 low: low (49, 50)

DEK–NUP214 AML (5)
FLT3-ITDe AML (28), MPAL (18), ETP (6)
  • WT1 and MK-V present: high

  • pLSC6 medium or high: high

  • pLSC6 low and AMTL absent: intermediate

AML other AML (39), AMKL (6), MPAL (24)
  • pLSC6 medium or high: high

  • pLSC6 low: intermediate (4)

aNumbers in parentheses indicate the number of cases across the discovery cohort with indicated immunophenotype. Genomic subtypes not identified in AML cases are not included in this table.

bOutcomes approaching 80% overall survival or greater are designated as low risk and survival less than 40% are designated as high risk. Literature support of previously described subtypes and risk status is indicated in parentheses.

cMinimal residual disease is considered an independent risk factor, and residual levels of disease following induction chemotherapy warrant escalation of risk status.

dReported in the literature (52).

eFLT3-ITD cases that are not included in the other subtypes (see Supplementary Fig. S26).