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. 2013 Oct;140(4):525-35.
doi: 10.1309/AJCP1Q0YSXEAHNKK.

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

Ryan C Johnson  1 , Natasha M Savage, Tsoyu Chiang, Jason R Gotlib, Athena M Cherry, Daniel A Arber, Tracy I George
Affiliations

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

Ryan C Johnson et al. Am J Clin Pathol. 2013 Oct.

Abstract

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.

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

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