利用下一代测序(NGS)描绘多发性骨髓瘤的复杂基因组景观:进展和取代传统基因检测的潜力。

Jaime Garcia-Heras
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引用次数: 0

摘要

目的:最近的NGS研究在多发性骨髓瘤中一步识别出特征的IGH易位和拷贝数异常,并且与同步细胞基因组检测具有相当高的准确性。此外,NGS还可以检测基因突变。全面基因组分析的这一前所未有的成功表明,有可能用一种更有效的NGS分析取代目前使用的单独测试(细胞遗传学、FISH、snp微阵列和突变分析)。在未来的道路上,NGS似乎有潜力通过详细的基因组图谱的临床应用来改善常规的病人护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing.

Objectives: Recent NGS studies in multiple myeloma identified in one step and with comparable high accuracy to the concurrent cytogenomic tests the characteristic IGH translocations and copy number abnormalities. In addition, NGS allowed detection of gene mutations. This unprecedented success of a comprehensive genomic analysis suggests the possibility of replacing the separate tests in current use (cytogenetics, FISH, SNPs microarray and mutation analysis) with a single more efficient NGS assay. Down the road, NGS appears to have the potential to improve routine patient care with the clinical application of a detailed genomic profile.

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