Soft tissue sarcomas (STSs) constitute a group of tumors with heterogeneous alterations and different biological behavior. Genetic profiling techniques have immense potential to revolutionize sarcoma classification, detection, and treatment. Cell-free DNA (cfDNA) analysis offers a minimally invasive approach to profiling tumor alterations, including tracking specific mutations or targeted panels of cancer-related genes via DNA sequencing methods. Circulating tumor DNA (ctDNA) platforms have gained popularity as a noninvasive alternative to tissue biopsies, offering a less invasive approach to tumor profiling. Nonetheless, ctDNA profiling in concordance with standard solid tumor comprehensive genomic profiling (CGP) is poorly characterized for STSs. Ultra-low-pass whole-genome sequencing and whole exome sequencing of cfDNA have yet to be fully leveraged in patients with sarcomas. This comprehensive review provides an overview of the application of ctDNA in STSs.
软组织肉瘤（STSs）是一组具有异质性改变和不同生物学行为的肿瘤。基因分析技术在革新肉瘤分类、检测和治疗方面具有巨大潜力。游离DNA（cfDNA）分析提供了一种微创的肿瘤改变分析方法，包括通过DNA测序技术追踪特定突变或癌症相关基因的靶向组合。循环肿瘤DNA（ctDNA）平台作为一种非侵入性的组织活检替代方法，因其微创的肿瘤分析特性而日益受到关注。然而，对于软组织肉瘤，ctDNA分析与标准实体瘤全面基因组分析（CGP）的一致性尚未得到充分研究。在肉瘤患者中，超低深度全基因组测序和cfDNA全外显子测序的应用潜力尚未被完全发掘。本综述全面概述了ctDNA在软组织肉瘤中的应用。
Unlocking the Potential of ctDNA in Sarcomas: A Review of Recent Advances
肿瘤(癌症)患者之家