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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。
In addition to the pathogenesis of chronic myeloid leukemia (CML) in myeloproliferative disorders (MPD), polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (IMF) BCR-ABL-negative MPD are not yet clear. The discovery of a JAK2V617F point mutation is a major breakthrough in the molecular pathogenesis of BCR-ABL-negative MPD, especially PV, which is an acquired activation mutation that is closely linked to patients’ high sensitivity to cell growth factors. The point mutation MPLW515LK of TPOR was found in ET and IMF. Although its mutation rate is low, its existence may have a unique role in the pathogenesis of ET and IMF.