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骨髓瘤遗传学进展及多发性骨髓瘤的药物基因组学检测前景

Advances in myeloma genetics and prospects for pharmacogenomic testing in multiple myeloma.

作者信息

Claudio Jaime O, Stewart A Keith

机构信息

Department of Medical Oncology, Princess Margaret Hospital, Toronto, Ontario, Canada

出版信息

Am J Pharmacogenomics. 2005;5(1):35-43. doi: 10.2165/00129785-200505010-00003.

DOI:10.2165/00129785-200505010-00003
PMID:15727487
Abstract

Pharmacogenomic studies in multiple myeloma, a neoplasia of clonally expanded malignant bone marrow plasma cells, are helping to set the stage for individualized therapy. Although relatively few in numbers, these studies are already providing new therapeutic targets and avenues for drug discoveries as well as contributing to novel prognostic markers in multiple myeloma. High-throughput mutation screening of the kinome promises to identify further novel targets for therapy. Genetics and gene expression profiling technology have improved molecular-based patient stratification and prognostic staging, expanded knowledge of the molecular mechanism of chemotherapeutic agents, and provided a better understanding of myeloma bone disease. The use of pharmacogenomic strategies in myeloma is thus already changing medical practice.

摘要

多发性骨髓瘤是一种克隆性扩增的恶性骨髓浆细胞肿瘤,药物基因组学研究正在为个体化治疗奠定基础。尽管此类研究数量相对较少,但已为药物发现提供了新的治疗靶点和途径,并有助于确定多发性骨髓瘤的新型预后标志物。对激酶组进行高通量突变筛查有望识别出更多新的治疗靶点。遗传学和基因表达谱技术改善了基于分子的患者分层和预后分期,拓展了对化疗药物分子机制的认识,并增进了对骨髓瘤骨病的理解。因此,药物基因组学策略在骨髓瘤治疗中的应用已经改变了医疗实践。

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