Mithraprabhu Sridurga, Spencer Andrew
Myeloma Research Group, Australian Centre for Blood Diseases, Alfred Hospital-Monash University, Melbourne, VIC, Australia.
Malignant Haematology and Stem Cell Transplantation, Alfred Hospital, Melbourne, VIC, Australia.
Methods Mol Biol. 2018;1792:129-145. doi: 10.1007/978-1-4939-7865-6_9.
Circulating tumor DNA (ctDNA) analysis is currently gaining momentum as an innovative methodology for characterizing the tumor genome and monitoring therapeutic efficacy in the multifocal, genetically and spatially heterogeneous plasma cell malignancy, multiple myeloma (MM). Circulating cell-free DNA (cfDNA), which consists of a combination of DNA derived from both tumor and normal cells, is present in extracellular bodily fluids. The presence of ctDNA within this admixture has been demonstrated recently in MM. In this chapter, we describe the routinely utilized methodology for the extraction and longitudinal analysis of specific mutations present in ctDNA derived from peripheral blood plasma of MM patients.
循环肿瘤DNA（ctDNA）分析作为一种创新方法，目前正逐渐兴起，用于在多灶性、基因和空间异质性的浆细胞恶性肿瘤——多发性骨髓瘤（MM）中表征肿瘤基因组并监测治疗效果。循环游离DNA（cfDNA）存在于细胞外体液中，它由肿瘤细胞和正常细胞来源的DNA组合而成。最近在MM中已证实这种混合物中存在ctDNA。在本章中，我们描述了从MM患者外周血血浆中提取ctDNA并对其中存在的特定突变进行纵向分析的常规方法。
