BCR-ABL阴性的骨髓增殖性疾病发病机制

Progression of BCR-ABL negative myeloproliferative disease

骨髓增殖性疾病(MPD)中除慢性粒细胞性白血病(CML)发病机制已明确外,真性红细胞增多症(PV),原发性血小板增多症(ET),原发性骨髓纤维化(IMF)等BCR-ABL阴性的MPD均尚不明确。JAK2V617F点突变的发现对于BCR-ABL阴性的MPD(尤其是PV)的分子发病机制是一个重大的突破,这是一个获得性的激活突变,与患者对细胞生长因子的高敏感性密切相关。在ET,IMF中发现了促血小板生成素受体(TPOR)的点突变MPLW515LK,虽突变率低,但其存在在ET,IMF发病机制中可能有独特作用。

Besides CML, the mechanism of BCR-ABL negative myeloproliferative diseases （PV, ET,IMF,et al. ）has been unknown. The discovery of JAK2V617F point mutation is an important break-through for understanding of molecular mechanism of BCR-ABL negative MPD, especially PV. As an acquired activation mutation, it has a close relationship with the hypersensitivity of cell growth factor. In addition, the point mutation of thrombopoietin receptor（TPOR）-MPLWS15L-K has been found in ET and IMF. Although low mutation rate,it seems that high significance occurs in ET and IMF.