ArticleHereditary cancer in clinical practice2021
Novel PHOX2B germline mutation in childhood medulloblastoma: a case report.
Article in Hereditary cancer in clinical practice, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- A Review on Anaplastic Lymphoma Kinase (ALK) Rearrangements and Mutations: Implications for Gastric Carcinogenesis and Target Therapy.Current protein & peptide science · 2024Review
- Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.Frontiers in oncology · 2024Article
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12 authors.
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Abstract
backgroundMedulloblastoma 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.
conclusionsThis 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.
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