Schmitt-Graeff A H
Institut für Pathologie, Universitätsklinikum Freiburg, Breisacherstrasse 115a, Freiburg.
Pathologe. 2010 Feb;31(1):29-41. doi: 10.1007/s00292-009-1261-x.
Myeloproliferative neoplasms (MPNs) and related chronic disorders constitute a subgroup of myeloid malignancies which are defined according to clinical, morphological and molecular features by the actual World Health Organization classification of tumors of the haematopietic system. Screening procedures for a BCR-ABL fusion gene, JAK2, thrombopoietin receptor and KIT mutations are formally included in the diagnostic approach. Myelodysplastic/MPN overlap syndromes include rare entities such as refractory anemia with ringed sideroblasts characterized by a high proportion of JAK2V617F mutated cases. The paradigm of targeted treatment of chronic myeloid leukemia with imatinib has now been extended to eosinophilia-associated myeloid neoplasms with PDGFRA, PDGFRB or FGFR1 gene mutations. Pegylated interferon-alpha has convincingly been proved to reduce the JAK2 allele burden. JAK2 inhibitor drugs are currently being tested in clinical trials. The development of pathogenesis-targeted diagnostic and therapeutic approaches to the various MPNs will continue in the future.
骨髓增殖性肿瘤（MPNs）及相关慢性疾病构成了髓系恶性肿瘤的一个亚组，根据世界卫生组织现行的造血系统肿瘤分类，它们是依据临床、形态学和分子特征来定义的。BCR-ABL融合基因、JAK2、血小板生成素受体及KIT突变的筛查程序正式纳入诊断方法之中。骨髓增生异常/MPN重叠综合征包括一些罕见类型，如环形铁粒幼细胞性难治性贫血，其特征是JAK2V617F突变病例比例较高。伊马替尼治疗慢性髓性白血病的靶向治疗模式现已扩展至伴有PDGFRA、PDGFRB或FGFR1基因突变的嗜酸性粒细胞相关髓系肿瘤。聚乙二醇化干扰素-α已被确凿证明可降低JAK2等位基因负荷。JAK2抑制剂药物目前正在临床试验中进行测试。未来，针对各种MPNs的发病机制的诊断和治疗方法的研发仍将继续。
