Wessex Regional Genetics Laboratory, University of Southampton,Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK.
Curr Hematol Malig Rep. 2007 May;2(2):75-82. doi: 10.1007/s11899-007-0011-5.
Constitutive activation of protein tyrosine kinases plays a central role in the pathogenesis of myeloproliferative disorders, including BCR-ABL-negative chronic myeloid leukemia. Current research is focused on elucidating the full spectrum of causative mutations in this rare, heterogeneous disease. Activated tyrosine kinases are excellent targets for signal transduction therapy, and an accurate diagnosis including morphology, karyotyping, and molecular genetics will become increasingly important to direct individualized treatment. In addition, new molecular findings need to be incorporated into disease classification systems.
蛋白酪氨酸激酶的组成性激活在骨髓增生性疾病的发病机制中起着核心作用，包括 BCR-ABL 阴性慢性髓性白血病。目前的研究集中于阐明这种罕见的、异质性疾病中所有的致病突变。激活的酪氨酸激酶是信号转导治疗的极好靶点，准确的诊断，包括形态学、核型分析和分子遗传学，对于指导个体化治疗将变得越来越重要。此外，新的分子发现需要纳入疾病分类系统。
