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. 2009 Mar;2(1):27-33.
doi: 10.1007/s12308-009-0023-2. Epub 2009 Feb 10.

Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia

Sheeja T Pullarkat  1 , Vinod Pullarkat, Steven H Kroft, Carla S Wilson, Arshad N Ahsanuddin, Karen P Mann, Maung Thein, Wayne W Grody, Russell K Brynes
Affiliations

Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia

Sheeja T Pullarkat et al. J Hematop. 2009 Mar.

Abstract

Although KIT mutations are present in 20-25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications.

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Figures

Fig. 1
Fig. 1
a Pretreatment bone marrow aspirate (case 3) showing predominantly myeloblasts admixed with rare mast cells. Note the hypergranular cytoplasm within the mast cells (Wright-Giemsa, ×500). b Day 14 post-treatment bone marrow aspirate (case 3) with prominent mast cell infiltrate (Wright-Giemsa, ×200). c Immunohistochemistry for tryptase (case 3) highlights the mast cell infiltrate (×200). d Mast cells show expression of CD25 (case 3), a characteristic feature of neoplastic mast cells (×200)
See this image and copyright information in PMC

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