Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22)

Ryan C. Johnson, Natasha M. Savage, Tsoyu Chiang, Jason R. Gotlib, Athena M. Cherry, Daniel A. Arber, Tracy I. George

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Objectives: To assess the frequency of systemic mastocytosis (SM) in a large series of acute myeloid leukemia (AML) with t(8;21)(q22;q22). Methods: We retrospectively characterized 40 bone marrow aspirate smears and biopsy specimens from patients with AML with t(8;21) for the presence of SM. Cases were assessed for mast cell morphology and immunohistochemistry, as well as KIT exon 8 and 17 mutational assessment by reverse transcription polymerase chain reaction. Results: Four patients met criteria for SM, 1 met criteria for myelomastocytic leukemia, and 8 demonstrated the benign finding of mast cell hyperplasia. Conclusions: We recommend examining all cases of AML with t(8;21) for the presence of SM via morphology, immunophenotyping, and KIT mutational analysis studies.

Original languageEnglish (US)
Pages (from-to)525-535
Number of pages11
JournalAmerican Journal of Clinical Pathology
Issue number4
StatePublished - Oct 2013


  • AML with t(8;21)
  • CD25
  • D816V
  • Exon 17 KIT mutations
  • Myelomastocytic leukemia
  • N822K
  • Systemic mastocytosis
  • Tryptase

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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