Robyn Jamie, Lemery Steven, McCoy J Philip, Kubofcik Joseph, Kim Yae-Jean, Pack Svetlana, Nutman Thomas B, Dunbar Cynthia, Klion Amy D
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1881, USA.
Br J Haematol. 2006 Feb;132(3):286-92. doi: 10.1111/j.1365-2141.2005.05863.x.
Myeloproliferative hypereosinophilic syndrome (MHES) is a disorder characterised by male predominance, marked eosinophilia, splenomegaly, tissue fibrosis, elevated serum tryptase and the presence of the FIP1L1/PDGFRA fusion gene in peripheral blood mononuclear cells. The characteristic hypercellular bone marrow with dysplastic eosinophils and spindle-shaped mast cells suggest that multiple lineages may be involved in the clonal process. To determine which haematopoietic lineages are involved in MHES, we purified cells of specific lineages from patients with MHES and used nested reverse transcription polymerase chain reaction (RT-PCR), quantitative RT-PCR and fluorescence in situ hybridisation to analyse the purified cell populations for the presence of the fusion gene. The fusion gene was detected in eosinophils, neutrophils, mast cells, T cells, B cells and monocytes. These results suggest that the mutation arises in a pluripotential haematopoietic progenitor cell capable of giving rise to multiple lineages. The basis for the preferential expansion of eosinophils and mast cells remains unclear.
骨髓增殖性嗜酸性粒细胞增多综合征（MHES）是一种以男性为主、显著嗜酸性粒细胞增多、脾肿大、组织纤维化、血清类胰蛋白酶升高以及外周血单个核细胞中存在FIP1L1/PDGFRA融合基因为特征的疾病。具有发育异常的嗜酸性粒细胞和梭形肥大细胞的特征性细胞增多的骨髓提示多个谱系可能参与克隆过程。为了确定哪些造血谱系参与了MHES，我们从MHES患者中纯化了特定谱系的细胞，并使用巢式逆转录聚合酶链反应（RT-PCR）、定量RT-PCR和荧光原位杂交来分析纯化的细胞群体中融合基因的存在情况。在嗜酸性粒细胞、中性粒细胞、肥大细胞、T细胞、B细胞和单核细胞中检测到了融合基因。这些结果表明，该突变发生在能够产生多个谱系的多能造血祖细胞中。嗜酸性粒细胞和肥大细胞优先扩增的基础仍不清楚。
