神经母细胞瘤液体活检用于治疗反应、复发和复发评估的最新进展。

IF 1.4 4区 医学 Q4 GENETICS & HEREDITY Cancer Genetics Pub Date : 2024-09-03 DOI:10.1016/j.cancergen.2024.09.001
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引用次数: 0

摘要

神经母细胞瘤是一种源自神经嵴的交感肾上腺细胞或许旺细胞的儿科恶性肿瘤。神经母细胞瘤的风险分层取决于 MYCN 扩增、年龄、分期、倍性和染色体节段性改变。高风险病例的总生存率很低。病理和影像学检查可用于诊断,而治疗策略则取决于风险组别。尽管如此,50% 的高危神经母细胞瘤患者在治疗后病情得到缓解,但仍有可能复发。液体活检通常包括外周血采样,与外科肿瘤组织活检相比,其创伤性较小,因此很有吸引力。除了循环肿瘤细胞外,液体活检还能提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。监测肿瘤衍生分子信息有助于诊断、靶向治疗选择和治疗,同时还能反映疾病的最小残留量、复发和复发情况。本研究旨在回顾液体活检在神经母细胞瘤疾病诊断、疗效评估、最小残留病、复发和复发方面的最新研究。加深对液体活检应用的了解可为未来的前瞻性临床试验提供依据,并及时促进其在临床实践中的常规应用。
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Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

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.

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来源期刊
Cancer Genetics
Cancer Genetics ONCOLOGY-GENETICS & HEREDITY
CiteScore
3.20
自引率
5.30%
发文量
167
审稿时长
27 days
期刊介绍: The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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