Case 8: AML with t(1;22)

Case 8: AML with t(1;22)

AML (megakaryoblastic) with t(1;22) occurs in infants and young children less than 3 years old

1991 paper with more information:

The blasts in AML with t(1;22) have megakaryoblastic:

  • morphology, e.g cytoplasmic blebbing -- apologies, this case did not have a good example of that (but did of course have the translocation)
  • immunophenotype, hence positivity for CD61 and CD41a, and negativity for MPO

Major consideration on differential diagnosis is AML a/w Down syndrome, which would not show the translocation but have a GATA1 mutation

The RMB15::MKL1 fusion is associated with t(1;22)

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