First Department of Pathology, Medical School, National and Kapodistrian University of Athens, 75, Mikras Asias Street, Bld 10, Goudi, 11527 Athens, Greece.
Third Department of Orthopaedic Surgery, "KAT" General Hospital of Athens, Nikis 2, 14561 Kifissia, Greece.
Int J Mol Sci. 2021 Oct 26;22(21):11526. doi: 10.3390/ijms222111526.
Soft tissue and bone sarcomas represent a group of aggressive neoplasms often accompanied by dismal patient prognosis, especially when distant metastases are present. Moreover, effective treatment can pose a challenge, as recurrences are frequent and almost half of patients present with advanced disease. Researchers have unveiled the molecular abnormalities implicated in sarcomas' carcinogenesis, paving the way for novel treatment strategies based on each individual tumor's characteristics. Therefore, the development of new techniques aiding in early disease detection and tumor molecular profiling is imperative. Liquid biopsy refers to the sampling and analysis of patients' fluids, such as blood, to identify tumor biomarkers, through a variety of methods, including qRT-PCR, qPCR, droplet digital PCR, magnetic microbeads and digital PCR. Assessment of circulating tumor cells (CTCs), circulating free DNA (ctDNA), micro RNAs (miRs), long non-coding RNAs (lncRNAs), exosomes and exosome-associated proteins can yield a plethora of information on tumor molecular signature, histologic type and disease stage. In addition, the minimal invasiveness of the procedure renders possible its wide application in the clinical setting, and, therefore, the early detection of the presence of tumors. In this review of the literature, we gathered information on biomarkers assessed through liquid biopsy in soft tissue and bone sarcoma patients and we present the information they can yield for each individual tumor type.
软组织和骨肉瘤是一组侵袭性肿瘤,常伴有预后不良的患者,尤其是当存在远处转移时。此外,有效的治疗可能是一个挑战,因为复发频繁,几乎一半的患者患有晚期疾病。研究人员已经揭示了骨肉瘤发生癌变中涉及的分子异常,为基于每个肿瘤特征的新型治疗策略铺平了道路。因此,开发有助于早期疾病检测和肿瘤分子分析的新技术是至关重要的。液体活检是指通过各种方法从患者的体液(如血液)中取样和分析,以识别肿瘤生物标志物,包括 qRT-PCR、qPCR、液滴数字 PCR、磁性微珠和数字 PCR。循环肿瘤细胞(CTC)、游离循环 DNA(ctDNA)、微小 RNA(miRs)、长非编码 RNA(lncRNAs)、外泌体和外泌体相关蛋白的评估可以提供大量关于肿瘤分子特征、组织类型和疾病阶段的信息。此外,该程序的微创性使其有可能在临床环境中广泛应用,并因此早期发现肿瘤的存在。在这篇文献综述中,我们收集了通过液体活检评估的软组织和骨肉瘤患者的生物标志物信息,并介绍了它们可以为每种肿瘤类型提供的信息。