Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene

Blood

Volumn 100, Issue 2, 2002, Pages 661-665

  Yavuz, A Selim ^a   Lipsky, Peter E ^a   Yavuz, Sule ^a   Metcalfe, Dean D ^a   Akin, Cem ^a,b  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

ADULT; AGED; ARTICLE; B LYMPHOCYTE; C KIT GENE; CLINICAL ARTICLE; CLONOGENESIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; MALE; MAST CELL; MONOCYTE; PRIORITY JOURNAL; SYSTEMIC MASTOCYTOSIS;

EID: 0037100321     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-01-0203     Document Type: Article

References (17)

1. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder
2. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis
3. Identification of mutations in the coding sequence of the protooncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product
4. Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: A possible explanation for divergent clinical behavior
5. 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
6. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis
7. Soluble stem cell factor receptor (CD117) and IL-2 receptor alpha chain (CD25) levels in the plasma of patients with mastocytosis: Relationships to disease severity and bone marrow pathology
8. Mastocytosis
9. Analysis of the heavy chain repertoire of human peripheral B cells using single-cell polymerase chain reaction
10. Identification of a polymorphism in the transmembrane domain of the protooncogene c-kit in healthy subjects
11. Lineage involvement of stem cells bearing the Philadelphia chromosome in chronic myeloid leukemia in the chronic phase as shown by a combination of fluorescence-activated cell sorting and fluorescence in situ hybridization
12. Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: Evidence for involvement at the hematopoietic stem cell level
13. Deletion of chromosome 20q in myelodysplasia can occur in a multipotent precursor of both myeloid cells and B cells
14. Diagnostic criteria and classification of mastocytosis: A consensus proposal
15. Slowly progressive systemic mastocytosis with high mast-cell burden and no evidence of a non-mast-cell hematologic disorder: An example of a smoldering case?
16. A case of "smouldering" mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val
17. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors