ArticlePloS one2012
Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Tumors of the Nose and Paranasal Sinuses: Promoting Factors and Molecular Mechanisms-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Omics-based exploration of biomarkers and therapeutic targets in olfactory neuroblastoma.Discover oncology · 2026Review
- Updated Insights into the Molecular Pathophysiology of Olfactory Neuroblastoma Using Multi-Omics Analysis.Journal of personalized medicine · 2025Review
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
- Olfactory neuroblastoma mimics molecular heterogeneity and lineage trajectories of small-cell lung cancer.Cancer cell · 2024Article
- Update on olfactory neuroblastoma.Virchows Archiv : an international journal of pathology · 2024Review
- Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Dramatic response to targeted therapy in an aggressive olfactory neuroblastoma: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- The genomics and epigenetics of olfactory neuroblastoma: A systematic review.Laryngoscope investigative otolaryngology · 2021Review
- Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma.Nature communications · 2018Article
- Article
- Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options.The oncologist · 2017Article
- Genetic and molecular alterations in olfactory neuroblastoma: implications for pathogenesis, prognosis and treatment.Oncotarget · 2016Review
- Neuroendocrine Neoplasms of the Sinonasal Tract: Neuroendocrine Carcinomas and Olfactory Neuroblastoma.Head and neck pathology · 2016Review
- Prognostic utility of Hyams histological grading and Kadish-Morita staging systems for esthesioneuroblastoma outcomes.Head and neck pathology · 2015Article
- Clinical tumor sequencing: opportunities and challenges for precision cancer medicine.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2015Review
- Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer.BMC medical genomics · 2014Article
- Pathologic collision of inverted papilloma with esthesioneuroblastoma.Frontiers in oncology · 2014Article
- Genomic sequencing in cancer.Cancer letters · 2013Review
- Implementing personalized cancer genomics in clinical trials.Nature reviews. Drug discovery · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
backgroundOlfactory neuroblastoma (ONB) is a rare cancer of the sinonasal tract with little molecular characterization. We performed whole genome sequencing (WGS) on paired normal and tumor DNA from a patient with metastatic-ONB to identify the somatic alterations that might be drivers of tumorigenesis and/or metastatic progression. METHODOLOGY/PRINCIPAL
findingsGenomic DNA was isolated from fresh frozen tissue from a metastatic lesion and whole blood, followed by WGS at >30X depth, alignment and mapping, and mutation analyses. Sanger sequencing was used to confirm selected mutations. Sixty-two somatic short nucleotide variants (SNVs) and five deletions were identified inside coding regions, each causing a non-synonymous DNA sequence change. We selected seven SNVs and validated them by Sanger sequencing. In the metastatic ONB samples collected several months prior to WGS, all seven mutations were present. However, in the original surgical resection specimen (prior to evidence of metastatic disease), mutations in KDR, MYC, SIN3B, and NLRC4 genes were not present, suggesting that these were acquired with disease progression and/or as a result of post-treatment effects. CONCLUSIONS/SIGNIFICANCE: This work provides insight into the evolution of ONB cancer cells and provides a window into the more complex factors, including tumor clonality and multiple driver mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.