■实体肿瘤约占所有儿科癌症的30%。诊断通常基于原发性肿瘤活检的组织学和分子分析。液体活检具有优于常规组织活检的几个优点。然而,它们用于儿童实体瘤的基因组分析和反应监测仍处于实验阶段,大部分是回顾性的,对患者管理没有直接影响.在本病例系列中,我们讨论了6例实体肿瘤患儿的临床病例,对其进行了液体活检测定,并证明了液体活检在未来临床决策中的潜力。
■我们进行了定量实时PCR(RT-qPCR),液滴数字PCR(ddPCR)或无细胞DNA的减少代表亚硫酸氢盐测序(cfRRBS)在2017年至2023年之间在荷兰Máxima公主儿科肿瘤学中心治疗的六名患有实体瘤的儿科患者中收集的液体活检。结果被用来帮助临床决策的贡献,以建立诊断,通过预测和对治疗监测的反应。
■在3例患者中,cfRRBS帮助确定了横纹肌肉瘤的诊断,尤因肉瘤和神经母细胞瘤(病例1-3)。在两个病人中,液体活检用于预测,在神经母细胞瘤患者中通过MYCNddPCR和在横纹肌肉瘤患者的骨髓中通过RT-qPCR检测横纹肌肉瘤特异性mRNA(病例4和5)。在病例6中,mRNA检测显示疾病进展并辅助临床决策。
■此病例系列说明了液体活检的价值。我们进一步证明并推荐使用液体活检与常规方法结合使用,以确定转移状态。儿童实体瘤患者治疗反应的预测和监测。
UNASSIGNED: Solid tumors account for about 30% of all pediatric cancers. The diagnosis is typically based on histological and molecular analysis of a primary tumor biopsy. Liquid biopsies carry several advantages over conventional tissue biopsy. However, their use for genomic analysis and response monitoring of pediatric solid tumors is still in experimental stages and mostly performed retrospectively without direct impact on patient management. In this
case series we discuss six clinical cases of children with a solid tumor for whom a liquid biopsy assay was performed and demonstrate the potential of liquid biopsy for future clinical decision making.
UNASSIGNED: We performed quantitative real-time PCR (RT-qPCR), droplet digital PCR (ddPCR) or reduced representation bisulphite sequencing of cell-free DNA (cfRRBS) on liquid biopsies collected from six pediatric patients with a solid tumor treated between 2017 and 2023 at the Princess Máxima Center for Pediatric Oncology in the Netherlands. Results were used to aid in clinical decision making by contribution to establish a diagnosis, by prognostication and response to therapy monitoring.
UNASSIGNED: In three patients cfRRBS helped to establish the diagnosis of a rhabdomyosarcoma, an Ewing sarcoma and a neuroblastoma (
case 1-3). In two patients, liquid biopsies were used for prognostication, by MYCN ddPCR in a patient with neuroblastoma and by RT-qPCR testing rhabdomyosarcoma-specific mRNA in bone marrow of a patient with a rhabdomyosarcoma (
case 4 and 5). In
case 6, mRNA testing demonstrated disease progression and assisted clinical decision making.
UNASSIGNED: This
case series illustrates the value of liquid biopsy. We further demonstrate and recommend the use of liquid biopsies to be used in conjunction with conventional methods for the determination of metastatic status, prognostication and monitoring of treatment response in patients with pediatric solid tumors.