Wang Yilang, Fujiwara Tomohiro, Kurozumi Takanao, Ando Teruhiko, Ishimaru Takahiko, Kondo Hiroya, Nakata Eiji, Kunisada Toshiyuki, Ozaki Toshifumi
Department of Orthopaedic Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
Int J Clin Oncol. 2025 Jul 18. doi: 10.1007/s10147-025-02813-2.
Bone and soft-tissue sarcomas are a heterogeneous group of malignant tumors originating from mesenchymal tissues, accounting for approximately 1% of adult solid malignancies and 20% of pediatric solid malignancies. While blood-based tumor markers are available in major types of cancers, evidence demonstrating useful circulating biomarkers is limited in bone and soft-tissue sarcomas. Despite the development of combined modality treatments, a significant proportion of sarcoma patients respond poorly to chemotherapy or radiotherapy, leading to local relapse or distant metastasis. However, imaging methods, such as X-ray, computed tomography, positron emission tomography, magnetic resonance imaging, and scintigraphy, are mostly used to detect or monitor tumor development. Liquid biopsy is an emerging minimally invasive diagnostic technique that detects tumor-derived molecules in body fluids, including circulating tumor cells, circulating tumor DNA (ctDNA), circulating tumor RNA (ctRNA), and circulating extracellular vesicles. This method offers new possibilities for early tumor detection, prognostic evaluation, and therapeutic monitoring and may serve as a benchmark for treatment modification. This review focuses on the current technological advances in liquid biopsy for bone and soft-tissue sarcoma and explores its potential role in guiding personalized treatments. If these modalities could determine resistance to ongoing therapy or the presence of minimal residual disease at the end of the treatment protocol, the obtained data would be important for determining whether to change treatment approaches or add adjuvant therapies.
骨肉瘤和软组织肉瘤是一组起源于间充质组织的异质性恶性肿瘤,约占成人实体恶性肿瘤的1%,儿童实体恶性肿瘤的20%。虽然主要类型的癌症都有基于血液的肿瘤标志物,但在骨肉瘤和软组织肉瘤中,证明循环生物标志物有用的证据有限。尽管联合治疗方式有所发展,但仍有相当一部分肉瘤患者对化疗或放疗反应不佳,导致局部复发或远处转移。然而,诸如X射线、计算机断层扫描、正电子发射断层扫描、磁共振成像和闪烁扫描等成像方法大多用于检测或监测肿瘤的发展。液体活检是一种新兴的微创诊断技术,可检测体液中的肿瘤衍生分子,包括循环肿瘤细胞、循环肿瘤DNA(ctDNA)、循环肿瘤RNA(ctRNA)和循环细胞外囊泡。这种方法为早期肿瘤检测、预后评估和治疗监测提供了新的可能性,并可作为治疗调整的基准。本综述重点介绍了骨肉瘤和软组织肉瘤液体活检的当前技术进展,并探讨了其在指导个性化治疗中的潜在作用。如果这些方法能够确定对正在进行的治疗的耐药性或治疗方案结束时最小残留疾病的存在,那么所获得的数据对于确定是否改变治疗方法或添加辅助治疗将非常重要。