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1. FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia.

Author

Tefferi A, Lasho TL, Brockman SR, Elliott MA, Dispenzieri A, and Pardanani A

Subjects
Aged, 80 and over, Eosinophilia complications, Eosinophilia genetics, Female, Humans, Male, Mastocytosis, Systemic blood, Mastocytosis, Systemic complications, Middle Aged, Mutation, Mastocytosis, Systemic genetics, Oncogene Proteins, Fusion genetics, Proto-Oncogene Proteins c-kit genetics, Receptor, Platelet-Derived Growth Factor alpha genetics, mRNA Cleavage and Polyadenylation Factors genetics
Abstract

Laboratory methods to detect both FIP1L1-PDGFRA and c-kit D816V mutations were combined with immunomagnetic cell separation to study the extent of clonal involvement by both myeloid and lymphoid cells in 3 patients with systemic mastocytosis associated with eosinophilia. The results suggested an early stem cell origin for the FIP1L1-PDGFRA mutation.

Published
2004

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