Novel PHOX2B germline mutation in childhood medulloblastoma: a case report
| Autor: | Huaming Lin, Zhouxia Zheng, Caiping Ke, Jiexia Zhang, Chen Zhuona, Liu Yanhui, Kailing Huang, Chaoming Li, Xiaoshun Shi, Yingjun Luo, Allen M. Chen, Bifeng Jiang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 Case Report medicine.disease_cause PHOX2B lcsh:RC254-282 Germline Cancer screening 03 medical and health sciences symbols.namesake 0302 clinical medicine Germline mutation medicine Family history Genetics (clinical) Exome sequencing Sanger sequencing Medulloblastoma Mutation business.industry Whole exome sequencing lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease Human genetics lcsh:Genetics 030104 developmental biology Oncology 030220 oncology & carcinogenesis Cancer research symbols business |
| Zdroj: | Hereditary Cancer in Clinical Practice Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-6 (2021) |
| ISSN: | 1897-4287 1731-2302 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink