Department of Pathology, Odense University Hospital, Odense, Denmark.
Dermatology. 2013;226(3):233-7. doi: 10.1159/000349986. Epub 2013 Jun 14.
Most adults with systemic mastocytosis (SM) carry the somatic KIT D816V mutation, but the occurrence of the mutation in lesional skin remains to be characterized.
To assess the distribution and fraction of KIT D816V mutation-positive cells in lesional skin.
Lesional skin biopsies from 29 adults with SM were analysed using sensitive and quantitative qPCR KIT D816V mutation analysis.
The KIT D816V mutation was detected in skin in all cases. Highly similar mutation levels were observed in all patients with a median of 5% mutation-positive cells in the skin (range 1-23%).
The KIT D816V mutation is consistently present in lesional skin in adults with SM. The low variation in mutation levels detected in lesional skin contrasts blood and bone marrow where mast cell (MC) progenitor and non-MC lineage involvement causes the mutation-positive cell fraction to be highly variable.
大多数患有系统性肥大细胞增多症（SM）的成年人携带体细胞 KIT D816V 突变，但病变皮肤中是否存在突变仍有待阐明。
评估病变皮肤中 KIT D816V 突变阳性细胞的分布和比例。
使用敏感和定量 qPCR KIT D816V 突变分析，对 29 名 SM 成年患者的皮肤病变活检进行分析。
所有病例均在皮肤中检测到 KIT D816V 突变。所有患者的突变水平非常相似，皮肤中突变阳性细胞的中位数为 5%（范围为 1-23%）。
在患有 SM 的成年患者的皮肤病变中，KIT D816V 突变始终存在。与血液和骨髓相比，病变皮肤中检测到的突变水平变化较小，在血液和骨髓中，肥大细胞（MC）祖细胞和非 MC 谱系的参与导致突变阳性细胞比例高度可变。
