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骨髓增生异常综合征治疗中复发性细胞遗传学异常的评估

Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes.

作者信息

Olney Harold J, Le Beau Michelle M

机构信息

Université de Montréal, CHUM Hospital Notre-Dame, 1560 Sherbrooke St E, Montréal, Québec, H2L 4M1, Canada.

出版信息

Leuk Res. 2007 Apr;31(4):427-34. doi: 10.1016/j.leukres.2006.10.023. Epub 2006 Dec 11.

Abstract

Myelodysplastic syndromes (MDS) are clinically heterogeneous, but the presence of specific cytogenetic abnormalities can predict disease manifestations, provide a basis for prognosis, and direct treatment. Conventional cytogenetic analysis is instrumental in identifying chromosomal abnormalities in MDS and novel genetic methods may provide supplementary information. Treatment with lenalidomide was recently shown to be effective in MDS, particularly in those cases with del(5q), resulting in durable cytogenetic remission and hematological responses. In this paradigm, diagnosis of the del(5q) abnormality would be essential to predicting response to therapy.

摘要

骨髓增生异常综合征(MDS)在临床上具有异质性,但特定细胞遗传学异常的存在可以预测疾病表现,为预后提供依据,并指导治疗。传统细胞遗传学分析有助于识别MDS中的染色体异常,而新的基因方法可能提供补充信息。最近研究表明,来那度胺治疗MDS有效,尤其是对于那些伴有5号染色体长臂缺失(del(5q))的病例,可导致持久的细胞遗传学缓解和血液学反应。在此模式下,诊断del(5q)异常对于预测治疗反应至关重要。

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