Acute Megakaryoblastic Leukemia (AMKL)

Overview

Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia defined by megakaryoblastic differentiation. In children, a particularly aggressive form is associated with the CBFA2T3-GLIS2 fusion gene (non-Down syndrome AMKL), which is diagnostic and carries a poor prognosis. AMKL also arises in the context of Down syndrome (trisomy 21), where it is associated with GATA1 mutations and a more favorable prognosis.

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes AMKL cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: CBFA2T3-GLIS2 fusion detected by RNA-seq in an AMKL patient — diagnostic and poor-prognosis marker; finding supported recommendation for bone-marrow transplant PMID:28007021.

Subtypes

  • Non-Down syndrome AMKL: often driven by CBFA2T3-GLIS2 or RBM15-MKL1 fusions; poor prognosis.
  • Down syndrome AMKL: driven by GATA1 mutations on a trisomy 21 background; more favorable prognosis.

Therapeutic landscape

  • Bone-marrow transplantation is the standard of care for high-risk CBFA2T3-GLIS2-positive AMKL PMID:28007021.

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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