Systemic mastocytosis with associated clonal hematological non‐mast‐cell lineage disease: Analysis of clinicopathologic features and activating c‐kit mutations

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Abstract
The majority of patients with systemic mastocytosis with associated clonal, hematological non‐mast cell lineage disease (SM‐AHNMD) have a myeloid stem cell malignancy including myelodysplastic syndromes (MDS), myelodysplastic/myeloproliferative disorders, acute myeloid leukemia (AML), or chronic myeloproliferative disease. The clinicopathologic features of SM‐AHNMD have not been fully characterized. We describe seven cases of this entity: 3 with MDS, 3 with AML, and 1 with chronic myelomonocytic leukemia. In the majority of cases, SM was diagnosed concurrently with the myeloid malignancy and aberrant mast cell morphology was observed. The commonly described c‐kit enzymatic site mutation Asp816Val was detected only in 2 cases, while 3 patients carried the Asp816His mutation. Among the 3 cases with AML, 2 patients carried the translocation t(8;21). On the basis of our results and other reported cases, there appears to be a specific association between SM and AML with t(8;21). Concurrent occurrence of SM may define a subset of patients with de novo AML and other myeloid malignancies who have an adverse prognosis. As clinically effective tyrosine kinase inhibitors that inhibit enzymatic‐type c‐kit mutations are being developed, detection of mast cell proliferation associated with myeloid malignancy may have important therapeutic implications. Am. J. Hematol. 73:12–17, 2003.

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