文章：

17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications

原文发布日期：12 January 2024

DOI: 10.3390/cancers16020338

类型: Article

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英文摘要：

Neuroblastoma (NB) is the most frequent extracranial solid childhood tumor. Despite advances in the understanding and treatment of this disease, the prognosis in cases of high-risk NB is still poor. 17q gain has been shown to be the most frequent genomic alteration in NB. However, the significance of this remains unclear because of its high frequency and association with other genetic modifications, particularly segmental chromosomal aberrations, 1p and 11q deletions, andMYCNamplification, all of which are also associated with a poor clinical prognosis. This work reviewed the evidence on the clinical and biological significance of 17q gain. It strongly supports the significance of 17q gain in the development of NB and its importance as a clinically relevant marker. However, it is crucial to distinguish between whole and partial chromosome 17q gains. The most important breakpoints appear to be at 17q12 and 17q21. The former distinguishes between whole and partial chromosome 17q gain; the latter is a site ofIGF2BP1andNME1genes that appear to be the main oncogenes responsible for the functional effects of 17q gain.

摘要翻译： 

神经母细胞瘤（NB）是最常见的儿童颅外实体肿瘤。尽管对该疾病的认识和治疗已取得进展，但高危神经母细胞瘤的预后仍然较差。研究表明，17号染色体长臂增益（17q gain）是神经母细胞瘤中最常见的基因组改变。然而，由于其高发性及与其他遗传修饰（特别是节段性染色体畸变、1p和11q缺失以及MYCN扩增）的关联性，这一现象的意义尚不明确——所有这些遗传异常同样与不良临床预后相关。本文综述了关于17q增益临床与生物学意义的证据，结果强烈支持17q增益在神经母细胞瘤发展中的重要作用及其作为临床相关标志物的重要性。但必须区分17号染色体长臂的整体增益与部分增益，其中最重要的断点位于17q12和17q21区域：前者是区分整体与部分染色体增益的关键位点；后者则是IGF2BP1和NME1基因的所在位置，这两个基因似乎是介导17q增益功能效应的主要致癌基因。

原文链接：

17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications