FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia.
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.
Tefferi
Ayalew
A
Lasho
Terra L
TL
Brockman
Stephanie R
SR
Elliott
Michelle A
MA
Dispenzieri
Angela
A
Pardanani
Animesh
A
D000369:Aged, 80 and over; D004802:Eosinophilia / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D034721:Mastocytosis, Systemic / Q000097:blood / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics*
D015514:Oncogene Proteins, Fusion; D039221:mRNA Cleavage and Polyadenylation Factors; C479819:FIP1L1-PDGFRA fusion protein, human; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha