Genetics and cytogenetics of multiple myeloma: A workshop report.
Genetics and cytogenetics of multiple myeloma: A workshop report.
复制标题
DOI：
10.1158/0008-5472.can-03-2876
复制
发表时间：
2004-02-15
期刊：
影响因子：
11.2
通讯作者：
Avet-Loiseau, Herve
中科院分区：
文献类型：
--
作者：
Fonseca, Rafael;Barlogie, Bart;Avet-Loiseau, Herve
关于多发性骨髓瘤遗传异常的生物学和临床意义已经了解了很多。由于该领域的最新进展，2003年2月在巴黎举办了一次国际讲习班。本摘要描述了该会议产生的共识建议，特别强调了新的遗传观察结果。例如，越来越清楚的是，涉及免疫球蛋白重链位点的易位对于一半患者的发病机制是重要的。作为一个推论，它也清楚，其余的患者，缺乏IgH易位，具有超二倍体作为他们的疾病的标志。几个重要的遗传标记与缩短的生存期相关，如13号染色体单体性，亚二倍体等。导致意义不明的单克隆丙种球蛋白病（MGUS）转化为骨髓瘤的事件仍不清楚。骨髓瘤和MGUS之间的少数差异性遗传病变之一是后者中ras突变的存在。基因表达平台能够检测骨髓瘤克隆细胞中发现的许多遗传畸变。确定了需要进一步研究的领域。对遗传畸变的研究将可能为该病的靶向治疗提供平台。
Much has been learned regarding the biology and clinical implications of genetic abnormalities in multiple myeloma. Because of recent advances in the field, an International Workshop was held in Paris in February of 2003. This summary describes the consensus recommendations arising from that meeting with special emphasis on novel genetic observations. For instance, it is increasingly clear that translocations involving the immunoglobulin heavy-chain locus are important for the pathogenesis of one-half of patients. As a corollary, it also clear that the remaining patients, lacking IgH translocations, have hyperdiploidy as the hallmark of their disease. Several important genetic markers are associated with a shortened survival such as chromosome 13 monosomy, hypodiploidy, and others. The events leading the transformation of the monoclonal gammopathy of undetermined significance (MGUS) to myeloma are still unclear. One of the few differential genetic lesions between myeloma and MGUS is the presence of ras mutations in the latter. Gene expression platforms are capable of detecting many of the genetic aberrations found in the clonal cells of myeloma. Areas in need of further study were identified. The study of the genetic aberrations will likely form the platform for targeted therapy for the disease.