Kelaidi Charikleia, Eclache Virginie, Fenaux Pierre
Hôpital Avicenne (Assistance Publique, Hôpitaux de Paris), University Paris 13, Bobigny, France.
Br J Haematol. 2008 Feb;140(3):267-78. doi: 10.1111/j.1365-2141.2007.06910.x.
Defined by isolated del 5q and no excess of marrow blasts, the '5q- syndrome' is a specific type of myelodysplastic syndrome (MDS) with particular characteristics, including severe anaemia, frequent thrombocytosis, typical dysmegakaryopoiesis and favourable outcome. Its pathogenesis remains uncertain, particularly regarding the role of the inactivation of gene(s) situated in 5q. Until the advent of lenalidomide, repeated red blood cell (RBC) transfusions were generally the only treatment for 5q- syndrome, which was resistant to other therapeutic approaches. Lenalidomide can lead to RBC transfusion independence in at least two-thirds of cases of 5q- syndrome, and about one half of those responses are maintained after 2 years of treatment. Importantly, frequent complete pathological and cytogenetic responses are also obtained. Grade 3 or 4 neutropenia and thrombocytopenia, especially during the first 6-8 weeks of treatment, are the major side effects of lenalidomide, justifying close clinical and blood counts monitoring. Preliminary results suggest that lenalidomide is also active in MDS with del 5q other than the 5q- syndrome. The mechanisms of action of lenalidomide, although uncertain, appear to include targeting of the del 5q clone. Therefore, lenalidomide may have an effect on disease course and survival, which is currently being assessed in clinical trials.
“5q-综合征”由孤立的5号染色体长臂缺失且骨髓原始细胞无增多所定义,是骨髓增生异常综合征(MDS)的一种特殊类型,具有特定特征,包括严重贫血、频繁血小板增多、典型巨核细胞发育异常以及良好预后。其发病机制仍不确定,特别是位于5号染色体长臂上的基因失活所起的作用。在来那度胺出现之前,反复输注红细胞(RBC)通常是5q-综合征的唯一治疗方法,该综合征对其他治疗方法耐药。来那度胺可使至少三分之二的5q-综合征患者不再依赖RBC输血,且约一半的反应在治疗2年后仍能维持。重要的是,还能频繁获得完全的病理和细胞遗传学反应。3级或4级中性粒细胞减少和血小板减少,尤其是在治疗的前6 - 8周,是来那度胺的主要副作用,这就需要密切进行临床和血常规监测。初步结果表明,来那度胺在除5q-综合征之外的伴有5号染色体长臂缺失的MDS中也有活性。来那度胺的作用机制虽然尚不确定,但似乎包括靶向5号染色体长臂缺失的克隆。因此,来那度胺可能会对疾病进程和生存产生影响,目前正在临床试验中进行评估。