Background Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported. Case presentation We present an 11-year-old male with medulloblastoma, who harbors a de novo PHOX2B germline mutation as detected by whole exome sequencing (WES). Family history was negative. Sanger sequencing confirmed this mutation in peripheral blood, hair bulbs, urine and saliva. Identification of novel germline mutations is beneficial for childhood cancer screening. Conclusions This case revealed a de novo PHOX2B germline mutation as a potential cause of medulloblastoma in a child and suggests familial germline variant screening is useful when an affected family is considering having a second child.

中文翻译：

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儿童髓母细胞瘤中新型 PHOX2B 种系突变：病例报告

背景 髓母细胞瘤是一种侵袭性脑肿瘤，主要见于儿童，很少有关于易患这种疾病的致病性种系突变的研究报道。病例介绍 我们介绍了一名患有髓母细胞瘤的 11 岁男性，他通过全外显子组测序 (WES) 检测到了一个新发 PHOX2B 种系突变。家族史为阴性。桑格测序证实了外周血、毛球、尿液和唾液中的这种突变。鉴定新的种系突变有利于儿童癌症筛查。结论 该病例揭示了新发 PHOX2B 种系突变是儿童成神经管细胞瘤的潜在原因，并表明当受影响的家庭考虑生育第二个孩子时，家族性种系变异筛查是有用的。