神经母细胞瘤是儿童最常见的颅外实体瘤,具有早期无自觉症状,发病隐匿,极易复发和转移等特点。高危的神经母细胞瘤患者即使进行综合治疗,仍有复发风险,预后不良。通过肿瘤标志物实现对神经母细胞瘤早期筛查,快速诊断,精准治疗,预后监测至关重要。液体活检作为一种非侵入性的肿瘤检测方法,在神经母细胞瘤的诊疗领域具有重要研究意义。循环肿瘤细胞是由原发灶或转移灶脱落进入外周血的肿瘤转移“种子”,是液体活检肿瘤标志物研究的热点之一,可持续无创地评估患者肿瘤转归及临床进展情况。本文主要阐述了神经母细胞瘤循环肿瘤细胞的富集,检测,及其在肿瘤病人的诊疗分期、病情监测、个体化治疗、以及复发耐药监测等方面的临床应用进展。Neuroblastoma is the most common extracranial solid tumor in children. It has the characteristics of early asymptomatic, insidious onset, and easy recurrence and metastasis. High-risk neuroblastoma patients, even with comprehensive treatment, still have the risk of recurrence and poor prognosis. It is very important to realize early screening, rapid diagnosis, accurate treatment and prognosis monitoring of neuroblastoma through tumor markers. As a non-invasive tumor detection method, liquid biopsy has important research significance in the field of diagnosis and treatment of neuroblastoma. Circulating tumor cells are the “seeds” of tumor metastasis that fall off from the primary tumor or metastasis into the peripheral blood. It is one of the hot spots in the study of liquid biopsy tumor markers, and can continuously and noninvasively evaluate the tumor outcome and clinical progress of patients. This article mainly describes the enrichment and detection of circulating tumor cells in neuroblastoma, and its clinical application progress in the diagnosis and treatment staging, disease monitoring, individualized treatment, and recurrence and drug resistance mo
目的研究转移性神经母细胞瘤(metastatic neuroblastoma,MNB)与非转移性神经母细胞瘤(non-MNB)患儿血浆代谢组学的差异。方法采用高效液相色谱-质谱联用技术对MNB患儿(53例)和non-MNB患儿(29例)血浆代谢组学数据进行采集,使用MetaboAnalyst 5.0软件对代谢组学数据进行分析,基于主成分分析、偏最小二乘法判别分析进行建模和多标准评价体系寻找两组间差异代谢物,最终利用富集分析筛选异常表达代谢通路。结果基于MNB与non-MNB患儿血浆代谢组学数据,依据变量权重值(variableimportant in projection,VIP)>1、|log_(2)差异倍数|>1且P<0.05,共筛选出30种差异代谢物,其中MNB中上调的代谢物有4种,如Spiroxamine,Phytanal等,下调的代谢物有26种,如LysoPC(16∶0),LysoPC[18∶2(9Z,12Z)],SM(d18∶2/16∶0)等。基于小分子通路数据库富集分析共筛选出11条差异代谢通路,如心磷脂生物合成、磷脂酰乙醇胺生物合成、磷脂酰胆碱生物合成、儿茶酚胺生物合成等。结论与non-MNB患儿相比,MNB患儿的血浆代谢存在磷脂、儿茶酚胺合成代谢通路,可为NB的临床诊断和药物治疗提供新的思路。
