Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway; Department of Oncology, Oslo University Hospital, Oslo, Norway.
Mol Aspects Med. 2020 Apr;72:100827. doi: 10.1016/j.mam.2019.10.004. Epub 2019 Nov 6.
Sarcomas are malignant tumors of mesenchymal origin that arise mainly from connective and supportive tissue. Sarcomas include a wide range of histological subtypes, showing a large diversity at the molecular level, from simple to highly complex karyotypes but with few recurrent somatic changes. Therapeutic decisions increasingly rely on the molecular characteristics of the individual tumor. Circulating cell-free DNA (ctDNA) is released into peripheral blood and can be used for the genomic analysis of sarcomas. However, the diversity and heterogeneity of somatic changes observed in sarcomas pose a challenge when choosing an adequate assay for the detection of ctDNA in body fluids. In this review, we provide an overview of different studies on ctDNA from blood in bone and soft tissue sarcomas, including gastrointestinal stromal tumors. We will specifically address the technological challenges that must be considered to achieve the sensitive detection of ctDNA and discuss the clinical applications of ctDNA in the management and treatment of sarcomas.
肉瘤是源自间充质的恶性肿瘤，主要来源于结缔组织和支持组织。肉瘤包括广泛的组织学亚型，在分子水平上表现出很大的多样性，从简单到高度复杂的核型，但很少有常见的体细胞变化。治疗决策越来越依赖于个体肿瘤的分子特征。循环无细胞 DNA（ctDNA）释放到外周血中，可用于肉瘤的基因组分析。然而，在选择用于检测体液中 ctDNA 的适当检测方法时，肉瘤中观察到的体细胞变化的多样性和异质性带来了挑战。在这篇综述中，我们概述了来自血液的 ctDNA 在骨和软组织肉瘤（包括胃肠道间质瘤）中的不同研究。我们将特别讨论在实现 ctDNA 的敏感检测时必须考虑的技术挑战，并讨论 ctDNA 在肉瘤的管理和治疗中的临床应用。
