PDF(Pubmed)
Abstract：
Neuroblastoma is a childhood cancer characterized by the formation of tumors derived from neuroblasts. Identifying the genetic mutations underlying neuroblastoma for genetic counseling and early diagnosis is essential. Thus, this study aimed to screen for pathogenic gene variants within a neuroblastoma family, aiming to contribute to genetic counseling practices. Clinical data was collected from a family affected by neuroblastoma, and peripheral blood DNA samples were obtained from all family members. A combination of whole-exome sequencing and Sanger sequencing was utilized to detect potential gene mutations. Proband 1 and her sister (Proband 2) were diagnosed with neuroblastoma, while their parents and siblings were unaffected. The analysis revealed a novel missense mutation, c.422G > A (p.Arg141Gln), in the PHOX2B gene, which was inherited from the mother. Notably, this mutation represents a previously unreported variant within the PHOX2B gene. Detecting the missense mutation c.422G > A (p.Arg141Gln) in the PHOX2B gene implies its potential pathogenic role within this neuroblastoma family. This finding widens the range of mutations observed in the PHOX2B gene and has important implications for early neuroblastoma diagnosis within this family.
摘要：
神经母细胞瘤是一种儿童癌症，其特征在于形成源自神经母细胞的肿瘤。识别神经母细胞瘤潜在的基因突变对于遗传咨询和早期诊断至关重要。因此，这项研究旨在筛选神经母细胞瘤家族中的致病基因变异，旨在为遗传咨询实践做出贡献。临床数据是从一个受神经母细胞瘤影响的家庭收集的，从所有家庭成员获得外周血DNA样本。使用全外显子组测序和Sanger测序的组合来检测潜在的基因突变。Proband1和她的妹妹（Proband2）被诊断为神经母细胞瘤，而他们的父母和兄弟姐妹没有受到影响。分析揭示了一个新的错义突变，c.422G>A（p。Arg141Gln),在PHOX2B基因中，是从母亲那里继承的。值得注意的是,该突变代表PHOX2B基因中以前未报道的变异.检测错义突变c.422G>A（p。PHOX2B基因中的Arg141Gln）暗示了其在该神经母细胞瘤家族中的潜在致病作用。这一发现扩大了PHOX2B基因中观察到的突变范围，并对该家族中早期神经母细胞瘤的诊断具有重要意义。
