Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis

被引:38
作者
Kristensen, Thomas [1 ]
Broesby-Olsen, Sigurd [2 ,3 ]
Vestergaard, Hanne [4 ]
Bindslev-Jensen, Carsten [2 ,3 ]
Moller, Michael B. [1 ]
机构
[1] Odense Univ Hosp, Dept Pathol, DK-5000 Odense C, Denmark
[2] Odense Univ Hosp, Dept Dermatol, DK-5000 Odense C, Denmark
[3] Odense Univ Hosp, Allergy Ctr, DK-5000 Odense C, Denmark
[4] Odense Univ Hosp, Dept Haematol, DK-5000 Odense C, Denmark
关键词
KIT D816V; mutation; blood; indolent systemic mastocytosis; ISM;
D O I
10.1111/j.1600-0609.2012.01789.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
It is presently accepted that the KIT D816V mutation is detectable in tissues with neoplastic mast cells in most patients with indolent systemic mastocytosis. In this study, neoplastic mast cells were detected in bone marrow, but not in peripheral blood, by flow cytometry in all 25 included cases of indolent systemic mastocytosis. However, the KIT D816V mutation was detected using mutation-specific qPCR in both bone marrow and peripheral blood in all 25 cases, demonstrating for the first time that the KIT D816V mutation is consistently present in non-mast cells in indolent systemic mastocytosis and that these cells are circulating in peripheral blood.
引用
收藏
页码:42 / 46
页数:5
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