神经系统:胚胎性肿瘤;神经母细胞瘤。

Q4 Medicine
Caileigh Pudela, Skye Balyasny, Mark A Applebaum
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引用次数: 18

摘要

神经母细胞瘤是一种临床异质性的儿童交感神经系统癌症,起源于神经嵴细胞。它是儿童最常见的颅外实体瘤,预后范围从自发肿瘤消退到侵袭性疾病,对多种治疗方法都有抵抗力。预后取决于患者的特点和肿瘤生物学决定的风险分类。对于低、中危神经母细胞瘤患者来说,减少治疗的进展是值得的,这些患者通常有很好的预后。在高危患者中,只有50%的患者能够长期生存,需要进一步的治疗。在过去的几十年里,基因组特征如生殖系突变、体细胞遗传畸变、染色体拷贝数、转录组学和表观遗传学已被证明与神经母细胞瘤的发病机制有关。家族性神经母细胞瘤的主要易感基因是ALK和PHOX2B。散发性神经母细胞瘤发病机制复杂,但染色体异常和单核苷酸多态性已被确定共同导致肿瘤发生。这些进步带来了新的治疗方法,有可能改善儿童神经母细胞瘤的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Nervous system: Embryonal tumors: Neuroblastoma.

Neuroblastoma is a clinically heterogenous pediatric cancer of the sympathetic nervous system that originates from neural crest cells. It is the most common extracranial solid tumor in childhood and prognosis ranges from spontaneous tumor regression to aggressive disease resistant to multimodal therapy. Prognosis depends on patient characteristics and tumor biology that determine risk classification. Advancements in therapy reductions are merited for low- and intermediate-risk neuroblastoma patients, who generally have excellent outcomes. Of the patients with high-risk disease, only 50% achieve long-term survival, and therapeutic advancements are needed. Over the past several decades, genomic features such as germline mutations, somatic genetic aberrations, chromosome copy number, transcriptomics, and epigenetics have proven to contribute to the pathogenesis of neuroblastoma. The primary predisposition genes in familial neuroblastoma are ALK and PHOX2B. Sporadic neuroblastoma arises with complex pathogenesis, but chromosomal abnormalities and single-nucleotide polymorphisms have been identified to cooperatively lead to oncogenesis. These advances have led to new therapeutic approaches with the potential to improve outcomes for children with neuroblastoma.

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