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

Johnson, Ryan C; Savage, Natasha M; Chiang, Tsoyu; Gotlib, Jason R; Cherry, Athena M; Arber, Daniel A; George, Tracy I · Am J Clin Pathol · 2013

retrospective_cohort · Level III

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Abstract

To assess the frequency of systemic mastocytosis (SM) in a large series of acute myeloid leukemia (AML) with t(8;21)(q22;q22). 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. Four patients met criteria for SM, 1 met criteria for myelomastocytic leukemia, and 8 demonstrated the benign finding of mast cell hyperplasia. We recommend examining all cases of AML with t(8;21) for the presence of SM via morphology, immunophenotyping, and KIT mutational analysis studies.

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