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

Haematologica

Volumn 89, Issue 7, 2004, Pages 871-873

  Tefferi, Ayalew ^a   Lasho, Terra L ^a   Brockman, Stephanie R ^a   Elliott, Michelle A ^a   Dispenzieri, Angela ^a   Pardanani, Animesh ^a  

^a MAYO CLINIC   (United States)

Author keywords

Eosinophilia; Mastocytosis; Mutations; Systemic mast cell disease

Indexed keywords

PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN BCL 2; STEM CELL FACTOR;

ARTICLE; B LYMPHOCYTE; CLONAL VARIATION; DNA SEQUENCE; EOSINOPHILIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; IMMUNOMAGNETIC SEPARATION; LYMPHOCYTE CLONE; MAST CELL; MUCOSA ASSOCIATED LYMPHOID TISSUE LYMPHOMA; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SYSTEMIC MASTOCYTOSIS;

AGED, 80 AND OVER; EOSINOPHILIA; FEMALE; HUMANS; MALE; MASTOCYTOSIS, SYSTEMIC; MIDDLE AGED; MRNA CLEAVAGE AND POLYADENYLATION FACTORS; MUTATION; ONCOGENE PROTEINS, FUSION; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 3242742988     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Kitayama H, Tsujimura T, Matsumura I, Oritani K, Ikeda H, Ishikawa J, et al. Neoplastic transformation of normal hematopoietic cells by constitutively activating mutations of c-kit receptor tyrosine kinase. Blood 1996;88:995-1004.
2. Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF, Shearer BM, et al. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib therapy. Blood 2003;102:3093-6.
3. Pardanani A, Reeder TL, Kimlinger TK, Back JY, Li CY, Butterfield JH, et al. Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease. Leuk Res 2003;27:739-42.
4. Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c- kit gene. Blood 2002;100:661-5.
5. Akin C, Kirshenbaum AS, Semere T, Worobec AS, Scott LM, Metcalfe DD. Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. Exp Hematol 2000;28:140-7.
6. Afonja O, Amorosi E, Ashman L, Takeshita K. Multilineage involvement and erythropoietin independent erythroid progenitor cells in a patient with systemic mastocytosis. Ann Hematol 1998;77:183-6.
7. Sotlar K, Fridrich C, Mall A, Jaussi R, Bultmann B, Valent P, et al. Detection of c-kit point mutation Asp-816→Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia. Leuk Res 2002;26:979-84.
8. Pardanani A, Reeder T, Li CY, Tefferi A. Eosinophils are derived from the neoplastic clone in patients with systemic mastocytosis and eosinophilia. Leuk Res 2003;27:883-5.
9. Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003;348:1201-14.
10. Reeder TL, Bailey RJ, Dewald GW, Tefferi A. Both B and T lymphocytes may be clonally involved in myelofibrosis with myeloid metaplasia. Blood 2003;101:1981-3.