Giagounidis Aristoteles A N, Germing Ulrich, Aul Carlo
St. Johannes Hospital, Medizinische Klinik II, Duisburg, Germany.
Clin Cancer Res. 2006 Jan 1;12(1):5-10. doi: 10.1158/1078-0432.CCR-05-1437.
The presence of del(5q), either as the sole karyotypic abnormality or as part of a more complex karyotype, has distinct clinical implications for myelodysplastic syndromes (MDS) and acute myeloid leukemia. The 5q- syndrome, a subtype of low-risk MDS, is characterized by an isolated 5q deletion and <5% blasts in the bone marrow and can serve as a useful model for studying the role of 5q deletions in the pathogenesis and prognosis of myeloid malignancies. Recent clinical results with lenalidomide, an oral immunomodulatory drug, have shown durable erythroid responses, including transfusion independence and complete cytogenetic remissions in patients with del(5q) MDS with or without additional chromosomal abnormalities. These results indicate that lenalidomide can overcome the pathogenic effect of 5q deletion in MDS and restore bone marrow balance. The data provide important new insights into the pathobiology of 5q chromosomal deletions in myeloid malignancies.
del(5q)的存在，无论是作为唯一的核型异常还是作为更复杂核型的一部分，对于骨髓增生异常综合征（MDS）和急性髓系白血病都有独特的临床意义。5q-综合征是低危MDS的一种亚型，其特征是孤立的5q缺失且骨髓中原始细胞<5%，可作为研究5q缺失在髓系恶性肿瘤发病机制和预后中作用的有用模型。来那度胺是一种口服免疫调节药物，近期的临床结果显示，无论有无其他染色体异常，del(5q) MDS患者使用来那度胺后均出现持久的红系反应，包括脱离输血和完全细胞遗传学缓解。这些结果表明，来那度胺可克服MDS中5q缺失的致病作用并恢复骨髓平衡。这些数据为髓系恶性肿瘤中5q染色体缺失的病理生物学提供了重要的新见解。
