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- Title
Novel PHOX2B germline mutation in childhood medulloblastoma: a case report.
- Authors
Ke, Caiping; Shi, Xiaoshun; Chen, Allen Menglin; Li, Chaoming; Jiang, Bifeng; Huang, Kailing; Zheng, Zhouxia; Liu, Yanhui; Chen, Zhuona; Luo, Yingjun; Lin, Huaming; Zhang, Jiexia
- 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.
- Subjects
MEDULLOBLASTOMA; GERM cells; CEREBELLAR tumors; CHILDHOOD cancer; EARLY detection of cancer; BRAIN tumors
- Publication
Hereditary Cancer in Clinical Practice, 2021, Vol 19, Issue 1, p1
- ISSN
1731-2302
- Publication type
Article
- DOI
10.1186/s13053-021-00170-5