Kjær Eva Kristine Ruud, Vase Christian Bach, Rossing Maria, Ahlborn Lise Barlebo, Hjalgrim Lisa Lyngsie
Department of Paediatrics and Adolescent Medicine, Paediatric Oncology Research Laboratory (Bonkolab), Copenhagen University Hospital Rigshospitalet, 5704, Blegdamsvej 9, Copenhagen DK-2100, Denmark.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Transl Oncol. 2023 Aug;34:101690. doi: 10.1016/j.tranon.2023.101690. Epub 2023 May 16.
Detection of circulating tumor-derived material (cTM) in the peripheral blood (PB) of cancer patients has been shown to be useful in early diagnosis, prediction of prognosis, and disease monitoring. However, it has not yet been thoroughly evaluated for pediatric sarcoma patients.
We searched the PubMed and EMBASE databases for studies reporting the detection of circulating tumor cells, circulating tumor DNA, and circulating RNA in PB of pediatric sarcoma patients. Data on performance in identifying cTM and its applicability in diagnosis, and evaluation of tumor characteristics, prognostic factors, and treatment response was extracted from publications.
A total of 79 studies were assigned for the present systematic review, including detection of circulating tumor cells (116 patients), circulating tumor DNA (716 patients), and circulating RNA (2887 patients). Circulating tumor cells were detected in 76% of patients. Circulating DNA was detected in 63% by targeted NGS, 66% by shallow WGS, and 79% by digital droplet PCR. Circulating RNA was detected in 37% of patients.
Of the cTM from Ewing's sarcoma and rhabdomyosarcoma ctDNA proved to be the best target for clinical application including diagnosis, tumor characterization, prognosis, and monitoring of disease progression and treatment response. For osteosarcoma the most promising targets are copy number alterations or patient specific micro RNAs, however, further investigations are needed to obtain consensus on clinical utility.
癌症患者外周血中循环肿瘤衍生物质（cTM）的检测已被证明在早期诊断、预后预测和疾病监测中有用。然而，尚未对小儿肉瘤患者进行全面评估。
我们在PubMed和EMBASE数据库中搜索了报告小儿肉瘤患者外周血中循环肿瘤细胞、循环肿瘤DNA和循环RNA检测的研究。从出版物中提取了关于识别cTM的性能及其在诊断中的适用性以及肿瘤特征、预后因素和治疗反应评估的数据。
本系统评价共纳入79项研究，包括循环肿瘤细胞检测（116例患者）、循环肿瘤DNA检测（716例患者）和循环RNA检测（2887例患者）。76%的患者检测到循环肿瘤细胞。通过靶向NGS检测到63%的循环DNA，通过浅层全基因组测序检测到66%，通过数字液滴PCR检测到79%。37%的患者检测到循环RNA。
在尤因肉瘤和横纹肌肉瘤的cTM中，ctDNA被证明是临床应用的最佳靶点，包括诊断、肿瘤特征分析、预后评估以及疾病进展和治疗反应的监测。对于骨肉瘤，最有前景的靶点是拷贝数改变或患者特异性微小RNA，然而，需要进一步研究以就临床实用性达成共识。
