Jahangiri Leila
School of Science and Technology, Nottingham Trent University, Clifton Site, Nottingham NG11 8NS, UK; Division of Cellular and Molecular Pathology, Department of Pathology, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 0QQ, UK.
Cancer Genet. 2024 Nov;288-289:32-39. doi: 10.1016/j.cancergen.2024.09.001. Epub 2024 Sep 3.
Neuroblastoma is a paediatric malignancy of the sympathoadrenal or Schwann cells derived from the neural crest. Risk stratification in neuroblastoma is informed by MYCN amplification, age, stage, ploidy, and segmental chromosomal alterations. High-risk cases bear dismal overall survival. A panel of pathology and imaging modalities are utilised for diagnosis, while treatment strategies depend on the risk group. Despite this, relapse can occur in 50% of high-risk neuroblastoma patients in remission post-treatment. Liquid biopsies typically comprise the sampling of the peripheral blood and are attractive since they are less invasive than surgical tumour tissue biopsies. Liquid biopsies retrieve circulating tumour DNA and circulating tumour RNA released by tumours in addition to circulating tumour cells. These biological materials can be utilised to analyse tumour genetic alterations. Monitoring tumour-derived molecular information can assist diagnostics, targeted therapy selection, and treatment while reflecting minimal residual disease, relapse, and recurrence. This study aims to review the latest research on liquid biopsies for disease diagnosis, assessing treatment efficacy, minimal residual disease, relapse, and recurrence in neuroblastoma. A deeper understanding of the application of liquid biopsies could inform future prospective clinical trials, and in time, facilitate their routine implementation in clinical practice.
神经母细胞瘤是一种源自神经嵴的交感肾上腺或施万细胞的儿科恶性肿瘤。神经母细胞瘤的风险分层依据MYCN扩增、年龄、分期、倍性和节段性染色体改变来确定。高危病例的总体生存率很低。一组病理和成像方式用于诊断，而治疗策略则取决于风险组。尽管如此，50%接受治疗后缓解的高危神经母细胞瘤患者仍可能复发。液体活检通常包括采集外周血，因其比手术肿瘤组织活检侵入性小而具有吸引力。液体活检除了能获取循环肿瘤细胞外，还能获取肿瘤释放的循环肿瘤DNA和循环肿瘤RNA。这些生物材料可用于分析肿瘤基因改变。监测肿瘤衍生的分子信息有助于诊断、靶向治疗选择和治疗，同时反映微小残留病、复发和再发情况。本研究旨在综述液体活检在神经母细胞瘤疾病诊断、评估治疗疗效、微小残留病、复发和再发方面的最新研究。对液体活检应用的更深入理解可为未来的前瞻性临床试验提供参考，并及时促进其在临床实践中的常规应用。
