Tonini Gian Paolo
Laboratory of Neuroblastoma, Pediatric Research Institute, Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
J Cancer. 2019 Jun 2;10(12):2601-2603. doi: 10.7150/jca.33291. eCollection 2019.
Neuroblastoma is a pediatric cancer of embryonic origin from neural crest cells. Neuroblastoma has a great medical and social impact because it is occurring with major frequency in pre-scholar age with metastatic disease showing less than 40% of survival at 5-years. In children, metastatic neuroblastoma has very few recurrent mutations but several chromosome structural copy variations. The tumorigenesis of neuroblastoma is still largely unknown; however recently, genomic wide association studies have shown that several gene allelic variants are associated with neuroblastoma predisposition. Many of these gene variants are related to maintaining the chromatin and mitosis integrity. In the present report, I suggest that neuroblastoma predisposing alleles may match by chance influencing the chromatin structure already during the early phases of embryonic life and inducing chromosome instability and structural damages.
神经母细胞瘤是一种起源于神经嵴细胞的胚胎性儿科癌症。神经母细胞瘤具有重大的医学和社会影响,因为它主要发生在学龄前,转移性疾病的5年生存率不到40%。在儿童中,转移性神经母细胞瘤的复发突变很少,但有几种染色体结构拷贝变异。神经母细胞瘤的肿瘤发生机制在很大程度上仍然未知;然而,最近全基因组关联研究表明,几个基因等位变异与神经母细胞瘤易感性有关。这些基因变异中的许多与维持染色质和有丝分裂完整性有关。在本报告中,我认为神经母细胞瘤易感等位基因可能偶然匹配,在胚胎生命的早期阶段就影响染色质结构,导致染色体不稳定和结构损伤。