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多发性骨髓瘤细胞遗传学特征的最新进展。

Recent advances in cytogenetic characterization of multiple myeloma.

机构信息

Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia.

Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, Seoul, Korea.

出版信息

Int J Lab Hematol. 2019 Feb;41(1):5-14. doi: 10.1111/ijlh.12882. Epub 2018 Jul 3.

Abstract

The detection of cytogenetic abnormalities in multiple myeloma (MM) has received more importance over last years for risk stratification and the new risk-adapted treatment strategies. Conventional G-banding analysis should be included in a routine procedure for the initial diagnostic workup for patients suspected of MM. However, the detection of chromosomal abnormalities in MM by conventional cytogenetics is limited owing to the low proliferative activity of malignant plasma cells as well as the low number of plasma cells in bone marrow specimens. Fluorescence in situ hybridization (FISH) or microarray-based technologies can overcome some of those drawbacks and detect specific target arrangements as well as chromosomal copy number changes. In this review, we will discuss different cytogenetic approaches and compare their strength and weakness to provide genetic information for risk stratification and prediction of outcome in MM patients.

摘要

近年来,多发性骨髓瘤(MM)细胞遗传学异常的检测因其在风险分层和新的风险适应治疗策略中的重要性而受到更多关注。对于疑似 MM 的患者,应将常规 G 带分析纳入初始诊断工作的常规程序。然而,由于恶性浆细胞的低增殖活性以及骨髓标本中浆细胞的数量低,常规细胞遗传学检测 MM 中的染色体异常受到限制。荧光原位杂交(FISH)或基于微阵列的技术可以克服这些缺点,并检测特定的靶排列以及染色体拷贝数变化。在这篇综述中,我们将讨论不同的细胞遗传学方法,并比较它们的优缺点,为 MM 患者的风险分层和预后预测提供遗传信息。

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