Caiping Ke1, Xiaoshun Shi2, Allen Menglin Chen3,4, Chaoming Li1, Bifeng Jiang1, Kailing Huang3,4, Zhouxia Zheng3,4, Yanhui Liu3,4, Zhuona Chen3,4, Yingjun Luo3,4, Huaming Lin5, Jiexia Zhang6. 1. First Tumor Department, Maoming People's Hospital, Maoming, 525000, China. 2. Department of Thoracic Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, People's Republic of China. 3. Guangzhou Mendel Genomics and Medical Technology Co., Ltd., Guangzhou, 510535, China. 4. Mendel Genes Inc, Manhattan Beach, CA, USA. 5. First Tumor Department, Maoming People's Hospital, Maoming, 525000, China. 2388.99@163.com. 6. State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510120, China. dr_zhangjx@126.com.
Abstract
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.
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.
Entities:
Keywords:
Cancer screening; Germline mutation; Medulloblastoma; PHOX2B; Whole exome sequencing
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