ArticleOncogene2004
The Phox2B homeobox gene is mutated in sporadic neuroblastomas.
Article in Oncogene, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23.BMC cancer · 2008Pooled it
- Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.The FEBS journal · 2026Article
- Transcription factor activity-based stratification reveals prognostic subtypes and immune landscape in neuroblastoma.Translational pediatrics · 2025Article
- Emerging Trends in Neuroblastoma Diagnosis, Therapeutics, and Research.Molecular neurobiology · 2025Review
- Pharmacologically Targeting Ferroptosis and Cuproptosis in Neuroblastoma.Molecular neurobiology · 2025Review
- HOTTIP rs1859168 C > A polymorphism reduces neuroblastoma susceptibility in Chinese children.European journal of pediatrics · 2024Article
- Cell state plasticity in neuroblastoma.EJC paediatric oncology · 2024Article
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- RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children.BMC cancer · 2023Article
- Review
- Recent advances in the developmental origin of neuroblastoma: an overview.Journal of experimental & clinical cancer research : CR · 2022Review
- Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.Cancer research · 2021Article
- A Focus on Regulatory Networks Linking MicroRNAs, Transcription Factors and Target Genes in Neuroblastoma.Cancers · 2021Review
- Biomarkers in Neuroblastoma: An Insight into Their Potential Diagnostic and Prognostic Utilities.Current treatment options in oncology · 2021Review
- Molecular targeting therapies for neuroblastoma: Progress and challenges.Medicinal research reviews · 2021Review
- Novel PHOX2B germline mutation in childhood medulloblastoma: a case report.Hereditary cancer in clinical practice · 2021Article
- The SRCIN1/p140Cap adaptor protein negatively regulates the aggressiveness of neuroblastoma.Cell death and differentiation · 2020Article
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuroblastomas are embryonal tumours of the sympatho-adrenal lineage with a clinical course ranging from spontaneous regression to fatal progression. The Phox2B homeobox transcription factor functions in the differentiation of the sympatho-adrenal lineage. Targets of Phox2B are, for example, genes of the (nor)adrenalin synthesis route, like Dopamine Beta Hydroxylase (DBH). Congenital Central Hypoventilation Syndrome was recently found to result from Phox2B mutations and two such patients in addition developed neuroblastoma. A germline mutation in Phox2B was identified in a family with hereditary neuroblastoma. Here, we report the first analysis of Phox2B in a series of 237 sporadic neuroblastomas and 22 cell lines. Six frameshift mutations were found in exons 2 and 3; including one in cell line SK-N-SH. Two patients showed de novo constitutional mutations. One of them was diagnosed with Haddad syndrome. All analysed cases expressed the mutated and wild-type Phox2B alleles. Ectopic expression of TrkA, the Nerve Growth Factor receptor, strongly downregulated Phox2B and DBH expression in cell line SH-SY5Y. However, TrkA and Phox2B showed a positive correlation in a panel of 66 neuroblastoma tumours. Although Phox2B mutations are infrequent (2.3%), they implicate a role for the Phox2B pathway in oncogenesis.
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