ArticleOncotarget2016
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Mutated FGFR1 is an oncogenic driver and therapeutic target in high-risk neuroblastoma.The Journal of clinical investigation · 2026Article
- METTL3-based epitranscriptomic editing screening identifies functional mNature cancer · 2026Article
- A novel role for Neurog2 in MYCN driven neuroendocrine plasticity of prostate cancer.Oncogene · 2025Article
- The relative contributions of genetic and non-genetic factors to the risk of neuroblastoma.Pediatric investigation · 2025Review
- BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.Journal of the National Cancer Institute · 2024Article
- Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.Journal of the National Cancer Institute · 2024Article
- Clinical Response to a PARP Inhibitor and Chemotherapy in a Child with BARD1-Mutated Refractory Neuroblastoma: A Case Report.Research square · 2023Article
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- Review
- Italian Precision Medicine in Pediatric Oncology: Moving beyond Actionable Alterations.International journal of molecular sciences · 2022Article
- Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.BMC cancer · 2022Article
- Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4.International journal of molecular sciences · 2022Article
- Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.Cancer science · 2022Article
- FGFR1 is a potential therapeutic target in neuroblastoma.Cancer cell international · 2022Article
- Review
- Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.PloS one · 2022Article
- Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways.Computational and structural biotechnology journal · 2022Article
- Sentinels of chromatin: chromodomain helicase DNA-binding proteins in development and disease.Genes & development · 2021Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The spectrum of somatic mutation of the most aggressive forms of neuroblastoma is not completely determined. We sought to identify potential cancer drivers in clinically aggressive neuroblastoma.Whole exome sequencing was conducted on 17 germline and tumor DNA samples from high-risk patients with adverse events within 36 months from diagnosis (HR-Event3) to identify somatic mutations and deep targeted sequencing of 134 genes selected from the initial screening in additional 48 germline and tumor pairs (62.5% HR-Event3 and high-risk patients), 17 HR-Event3 tumors and 17 human-derived neuroblastoma cell lines.We revealed 22 significantly mutated genes, many of which implicated in cancer progression. Fifteen genes (68.2%) were highly expressed in neuroblastoma supporting their involvement in the disease. CHD9, a cancer driver gene, was the most significantly altered (4.0% of cases) after ALK.Other genes (PTK2, NAV3, NAV1, FZD1 and ATRX), expressed in neuroblastoma and involved in cell invasion and migration were mutated at frequency ranged from 4% to 2%.Focal adhesion and regulation of actin cytoskeleton pathways, were frequently disrupted (14.1% of cases) thus suggesting potential novel therapeutic strategies to prevent disease progression.Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.In summary, whole exome and deep targeted sequencing identified novel cancer genes of clinically aggressive neuroblastoma. Our analyses show pathway-level implications of infrequently mutated genes in leading neuroblastoma progression.
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