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遗传学在骨髓瘤预后评估中的作用。

Role of genetics in prognostication in myeloma.

作者信息

Avet-Loiseau Hervé

机构信息

Laboratory of Hematology, and INSERM, U601, University Hospital, 9 quai Moncousu, 44093 Nantes, France.

出版信息

Best Pract Res Clin Haematol. 2007 Dec;20(4):625-35. doi: 10.1016/j.beha.2007.08.005.

DOI:10.1016/j.beha.2007.08.005
PMID:18070710
Abstract

As in other hematological malignancies, cytogenetics is becoming a major prognostic parameter in myeloma. Myeloma differs from other hemopathies particularly in technical aspects related to low proliferation and partial infiltrates. Thus, fluorescence in-situ hybridization (FISH) is probably the best method for cytogenetic assessment in myeloma, but it requires the identification of the malignant cells (morphologically, immunologically or through sorting). Several chromosomal abnormalities have been identified. Among them, the t(4;14) and t(14;16) translocations and the del(17p) are the most important for outcome prediction, all of them predicting a short overall survival. However, even in these genetically defined subgroups, an outcome heterogeneity is observed, suggesting the role of other factors (genetic or otherwise) in disease evolution.

摘要

与其他血液系统恶性肿瘤一样,细胞遗传学正成为骨髓瘤的主要预后参数。骨髓瘤与其他血液病的不同之处尤其体现在与低增殖和局部浸润相关的技术方面。因此,荧光原位杂交(FISH)可能是骨髓瘤细胞遗传学评估的最佳方法,但它需要识别恶性细胞(通过形态学、免疫学或分选方法)。已发现了几种染色体异常。其中,t(4;14)和t(14;16)易位以及del(17p)对预后预测最为重要,所有这些都预示着总生存期较短。然而,即使在这些基因定义的亚组中,也观察到了预后的异质性,这表明其他因素(遗传或其他因素)在疾病进展中发挥了作用。

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