Pearson Thomas C., Messinezy Maria, Westwood Nigel, Green Anthony R., Bench Anthony J., Green Anthony R., Huntly Brian J.P., Nacheva Elizabeth P., Barbui Tiziano, Finazzi Guido
Hematology Am Soc Hematol Educ Program. 2000:51-68. doi: 10.1182/asheducation-2000.1.51.
This review focuses on polycythemia vera (PV)-its diagnosis, cellular and genetic pathology, and management. In Section I, Dr. Pearson, with Drs. Messinezy and Westwood, reviews the diagnostic challenge of the investigation of patients with a raised hematocrit. The suggested approach divides patients on their red cell mass (RCM) results into those with absolute (raised RCM) and apparent (normal RCM) erythrocytosis. A standardized series of investigations is proposed for those with an absolute erythrocytosis to confirm the presence of a primary (PV) or secondary erythrocytosis, with abnormal and normal erythropoietic compartments respectively, leaving a heterogenous group, idiopathic erythrocytosis, where the cause cannot be established. Since there is no single diagnostic test for PV, its presence is confirmed following the use of updated diagnostic criteria and confirmatory marrow histology. In Section II, Dr. Green with Drs. Bench, Huntly, and Nacheva reviews the evidence from studies of X chromosome inactivation patterns that support the concept that PV results from clonal expansion of a transformed hemopoietic stem cell. Analyses of the pattern of erythroid and myeloid colony growth have demonstrated abnormal responses to several cytokines, raising the possibility of a defect in a signal transduction pathway shared by several growth factors. A number of cytogenetic and molecular approaches are now focused on defining the molecular lesion(s). In the last section, Dr. Barbui with Dr. Finazzi addresses the complications of PV, notably thrombosis, myelofibrosis and acute leukemia. Following an evaluation of published data, a management approach is proposed. All patients should undergo phlebotomy to keep the hematocrit (Hct) below 0.45, which may be all that is required in those at low thrombotic risk and with stable disease. In those at high thrombotic risk or with progressive thrombocytosis or splenomegaly, a myelosuppressive agent should be used. Hydroxyurea has a role at all ages, but (32)P or busulfan may be used in the elderly. In younger patients, interferon-alpha or anagrelide should be considered. Low-dose aspirin should be used in those with thrombotic or ischemic complications.
本综述聚焦于真性红细胞增多症（PV）——其诊断、细胞与遗传病理学以及治疗。在第一部分，皮尔逊博士与梅西内齐博士和韦斯特伍德博士共同探讨了对血细胞比容升高患者进行检查时所面临的诊断挑战。建议的方法是根据患者的红细胞量（RCM）结果将其分为绝对红细胞增多症（RCM升高）和相对红细胞增多症（RCM正常）两类。对于绝对红细胞增多症患者，提出了一系列标准化检查，以确认原发性（PV）或继发性红细胞增多症的存在，其红细胞生成分别异常和正常，剩下一组病因不明的异质性疾病，即特发性红细胞增多症。由于PV没有单一的诊断测试，需依据更新的诊断标准及骨髓组织学检查结果来确诊。在第二部分，格林博士与本奇博士、亨特利博士和纳切娃博士回顾了来自X染色体失活模式研究的证据，这些证据支持PV是由转化的造血干细胞克隆性扩增所致的概念。对红系和髓系集落生长模式的分析表明，其对多种细胞因子有异常反应，这增加了几种生长因子共享的信号转导途径存在缺陷的可能性。目前，许多细胞遗传学和分子方法都集中在确定分子病变方面。在最后一部分，巴尔比博士与菲纳齐博士讨论了PV的并发症，尤其是血栓形成、骨髓纤维化和急性白血病。在评估已发表的数据后，提出了一种治疗方法。所有患者都应进行放血治疗，使血细胞比容（Hct）低于0.45，对于血栓形成风险低且病情稳定的患者，这可能就是所需的全部治疗措施。对于血栓形成风险高或有进行性血小板增多症或脾肿大的患者，应使用骨髓抑制药物。羟基脲在各年龄段都有作用，但对于老年人，可使用（32）P或白消安。对于年轻患者，应考虑使用干扰素-α或阿那格雷。对于有血栓形成或缺血性并发症的患者，应使用低剂量阿司匹林。
