Vannucchi Alessandro M, Guglielmelli Paola, Tefferi Ayalew
Department of Hematology, University of Florence, Florence, Italy.
CA Cancer J Clin. 2009 May-Jun;59(3):171-91. doi: 10.3322/caac.20009. Epub 2009 Apr 15.
According to the 2008 World Health Organization classification system for hematologic malignancies, the myeloproliferative neoplasms (MPN) include chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, primary myelofibrosis, mastocytosis, chronic eosinophilic leukemia-not otherwise specified, chronic neutrophilic leukemia, and "MPN, unclassifiable." All of these clinicopathologic entities are characterized by stem cell-derived clonal myeloproliferation, and their phenotypic diversity is ascribed to the occurrence of distinct oncogenic events. In the last 4 years, new JAK2 and MPL mutations have been added to previously described ABL and KIT mutations as molecular markers of disease in MPN. These discoveries have markedly simplified the approach to clinical diagnosis and have also provided molecular targets for the development of small-molecule drugs. In the current article, the authors provide a clinically oriented overview of MPNs in terms of their molecular pathogenesis, classification, diagnosis, and management.
根据2008年世界卫生组织血液系统恶性肿瘤分类系统，骨髓增殖性肿瘤（MPN）包括慢性粒细胞白血病、真性红细胞增多症、原发性血小板增多症、原发性骨髓纤维化、肥大细胞增多症、慢性嗜酸性粒细胞白血病（非特指型）、慢性中性粒细胞白血病以及“无法分类的MPN”。所有这些临床病理实体均以干细胞来源的克隆性骨髓增殖为特征，其表型多样性归因于不同致癌事件的发生。在过去4年中，新发现的JAK2和MPL突变已作为MPN疾病的分子标志物，被添加到先前描述的ABL和KIT突变中。这些发现显著简化了临床诊断方法，也为小分子药物的研发提供了分子靶点。在本文中，作者从分子发病机制、分类、诊断和管理等方面，对MPN进行了以临床为导向的概述。
