Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: Analysis of clinicopathologic features and activating c-kit mutations
Article first published online: 11 APR 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Hematology
Volume 73, Issue 1, pages 12–17, May 2003
How to Cite
Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, M. and Brynes, R. K. (2003), Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: Analysis of clinicopathologic features and activating c-kit mutations. Am. J. Hematol., 73: 12–17. doi: 10.1002/ajh.10322
- Issue published online: 11 APR 2003
- Article first published online: 11 APR 2003
- Manuscript Accepted: 15 FEB 2003
- Manuscript Received: 29 JUN 2002
- systemic mastocytosis;
- acute myeloid leukemia;
- myelodysplastic syndrome;
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. © 2003 Wiley-Liss, Inc.