ArticleScientific reports2020
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Immunotherapy for pediatric solid tumors: overcoming biological barriers through rational multimodal combinations.Cancer immunology, immunotherapy : CII · 2026Review
- Tumor suppressor network dysregulation in neuroblastoma: molecular mechanisms and precision therapeutic opportunities.Frontiers in cell and developmental biology · 2026Review
- Chromosomal instability degrades developmental phenotypes essential for anti-GD2 immunotherapy outcomes in high-risk neuroblastoma.Cell reports. Medicine · 2025Article
- Advancements in neuroblastoma treatment: FDA-approved drugs and role of phytochemicals.Molecular biology reports · 2025Review
- Whole-genome sequencing shows modulation of neurodegenerative genes byFrontiers in molecular neuroscience · 2025Article
- Comparative analysis of whole-genome sequencing of tumor and cfDNA in a neuroblastoma patient: a case report.Frontiers in oncology · 2025Article
- Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.Journal of personalized medicine · 2024Article
- Structural basis for antibody recognition of the proximal MUC16 ectodomain.Journal of ovarian research · 2024Article
- Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.Journal of the National Cancer Institute · 2024Article
- Heterogeneous SSTR2 target expression and a novelFrontiers in oncology · 2024Article
- Telomere Maintenance Mechanisms in a Cohort of High-Risk Neuroblastoma Tumors and Its Relation to Genomic Variants in theCancers · 2023Article
- Article
- Clinical Response to a PARP Inhibitor and Chemotherapy in a Child with BARD1-Mutated Refractory Neuroblastoma: A Case Report.Research square · 2023Article
- Clonal evolution during metastatic spread in high-risk neuroblastoma.Nature genetics · 2023Article
- Identification of recurrent 3q13.31 chromosomal rearrangement indicatesInternational journal of oncology · 2023Article
- MEK inhibition causes BIM stabilization and increased sensitivity to BCL-2 family member inhibitors in RAS-MAPK-mutated neuroblastoma.Frontiers in oncology · 2023Article
- Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon.Journal of personalized medicine · 2022Article
- Clinically relevant treatment of PDX models reveals patterns of neuroblastoma chemoresistance.Science advances · 2022Article
- Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.Scientific reports · 2022Article
- Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.PloS one · 2022Article
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuroblastoma is the most common and deadly childhood tumor. Relapsed or refractory neuroblastoma has a very poor prognosis despite recent treatment advances. To investigate genomic alterations associated with relapse and therapy resistance, whole-genome sequencing was performed on diagnostic and relapsed lesions together with constitutional DNA from seven children. Sequencing of relapsed tumors indicates somatic alterations in diverse genes, including those involved in RAS-MAPK signaling, promoting cell cycle progression or function in telomere maintenance and immortalization. Among recurrent alterations, CCND1-gain, TERT-rearrangements, and point mutations in POLR2A, CDK5RAP, and MUC16 were shown in ≥ 2 individuals. Our cohort contained examples of converging genomic alterations in primary-relapse tumor pairs, indicating dependencies related to specific genetic lesions. We also detected rare genetic germline variants in DNA repair genes (e.g., BARD1, BRCA2, CHEK2, and WRN) that might cooperate with somatically acquired variants in these patients with highly aggressive recurrent neuroblastoma. Our data indicate the importance of monitoring recurrent neuroblastoma through sequential genomic characterization and that new therapeutic approaches combining the targeting of MAPK signaling, cell cycle progression, and telomere activity are required for this challenging patient group.
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