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首页> 外文期刊>Cell and Tissue Research >Genetic susceptibility to neuroblastoma: current knowledge and future directions
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Genetic susceptibility to neuroblastoma: current knowledge and future directions

机译：神经母细胞瘤的遗传易感性：当前的知识和未来方向

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Neuroblastoma, a malignancy of the developing peripheral nervous system that affects infants and young children, is a complex genetic disease. Over the past two decades, significant progress has been made toward understanding the genetic determinants that predispose to this often lethal childhood cancer. Approximately 1–2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset. The genetic basis of “sporadic” neuroblastoma is being studied through a large genome-wide association study (GWAS). These efforts have led to the discovery of many common susceptibility alleles, each with modest effect size, associated with the development and progression of sporadic neuroblastoma. More recently, next-generation sequencing efforts have expanded the list of potential neuroblastoma-predisposing mutations to include rare germline variants with a predicted larger effect size. The evolving characterization of neuroblastoma’s genetic basis has led to a deeper understanding of the molecular events driving tumorigenesis, more precise risk stratification and prognostics and novel therapeutic strategies. This review details the contemporary understanding of neuroblastoma’s genetic predisposition, including recent advances and discusses ongoing efforts to address gaps in our knowledge regarding this malignancy’s complex genetic underpinnings.
机译：神经母细胞瘤，一种影响婴儿和幼儿的外周神经系统的恶性肿瘤是一种复杂的遗传疾病。在过去的二十年中，已经对理解易受这种致死的儿童癌症的遗传决定蛋白来实现重大进展。大约1-2％的神经细胞母细胞瘤以常染色体显性方式遗传，并且共同发病率和连杆研究的组合导致了Phox2b和Alk中的种系突变作为该家族神经母细胞瘤子集的主要遗传贡献。通过大型基因组关联研究（GWAS）研究了“散发性”神经母细胞瘤的遗传基础。这些努力导致了许多常见易感等位基因，每种常见易感等位基因，与散发性神经母细胞瘤的开发和进展相关。最近，下一代测序努力扩展了潜在的神经母细胞瘤诱导突变列表，以包括具有预测的较大效果大小的罕见种系变体。神经母细胞瘤的遗传基础的演变表征导致对促进肿瘤发生的分子事件，更精确的风险分层和预后和新的治疗策略的更深入了解。该审查详细说明了当代对神经母细胞瘤的遗传易感性的理解，包括最近的进展，并讨论了持续的努力，以解决关于这种恶性复杂的基因内在的知识的差距。

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