Background: Soft tissue sarcomas (STSs) are rare, highly malignant mesenchymal tumours, comprising approximately 1% of all adult cancers and about 15% of paediatric solid tumours. STSs exhibit considerable genomic complexity with diverse subtypes, posing significant clinical challenges. Objectives: This study aims to characterise the molecular signature of primary STS through liquid biopsies and the untargeted metabolomic profiling of 75 patients, providing deep insights into cellular processes and potential therapeutic targets. Methods: This study analysed serum samples using nuclear magnetic resonance (NMR) spectroscopy for metabolomic profiling. Multivariate data analysis and machine learning classifiers were employed to identify biomarkers. Results: A panel of eleven significant deregulated metabolites were discovered in serum samples of patients with STS, with potential implications for cancer diagnosis and treatment. Conclusions: Choline decrease emerged as a marker for cancer progression, highlighting the potential of targeting its metabolism for therapeutic approaches in STS. The NMR analysis protocol proved effective for determining circulating biomarkers from liquid biopsies, making it suitable for rare disease research.
背景：软组织肉瘤（STSs）是一种罕见且高度恶性的间叶组织肿瘤，约占成人所有癌症的1%，以及儿童实体瘤的15%左右。软组织肉瘤具有显著的基因组复杂性，包含多种亚型，这给临床治疗带来了重大挑战。目的：本研究旨在通过对75名患者的液体活检和非靶向代谢组学分析，揭示原发性软组织肉瘤的分子特征，从而深入理解其细胞过程及潜在的治疗靶点。方法：本研究采用核磁共振（NMR）光谱技术对血清样本进行代谢组学分析，并运用多变量数据分析和机器学习分类器来识别生物标志物。结果：在软组织肉瘤患者的血清样本中发现了一组11种显著失调的代谢物，这些代谢物对癌症的诊断和治疗具有潜在意义。结论：胆碱水平下降可作为癌症进展的标志物，突显了靶向其代谢途径在软组织肉瘤治疗中的潜力。核磁共振分析方案在确定液体活检中的循环生物标志物方面证明是有效的，适用于罕见疾病的研究。
肿瘤(癌症)患者之家