ArticleCancer discovery2022
Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.
Article in Cancer discovery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neoadjuvant chemotherapy with angiogenesis inhibitor in early-stage breast cancer: a systematic review and meta-analysis.Frontiers in oncology · 2026Pooled it
- Frequency and Clinical Significance of Clonal and Subclonal Driver Mutations in High-Risk Neuroblastoma at Diagnosis: A Children's Oncology Group Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- Circulating Tumor DNA as a Biomarker in Patients With Stage III and IV Wilms Tumor: Analysis From a Children's Oncology Group Trial, AREN0533.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Trial
- Tumor evolution: signaling pathways, molecular mechanisms and therapeutic targets.Signal transduction and targeted therapy · 2026Review
- Liquid Biopsy in Primary CNS Tumors: Bridging Biology, Technology, and Clinical Care.Molecular diagnosis & therapy · 2026Review
- Clinical Liquid Biopsy Testing for Detection of Actionable Genomic Alterations in Children and Young Adults With Advanced Solid Tumors on the GAIN Study.JCO precision oncology · 2026Article
- Mutated FGFR1 is an oncogenic driver and therapeutic target in high-risk neuroblastoma.The Journal of clinical investigation · 2026Article
- Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.Cancer science · 2026Observational
- Copy-Number Aberrations in Circulating Tumor DNA Enable Diagnosis and Risk Stratification of Pediatric Neuroblastic Tumors.Cancer research communications · 2026Article
- Target antigen-displaying extracellular vesicles boost CAR T cell efficacy in cell and mouse models of neuroblastoma.Science translational medicine · 2025Article
- Histologic Response to Induction Chemotherapy in High-Risk Neuroblastoma.Cancer medicine · 2025Article
- Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.International journal of molecular sciences · 2025Article
- Circulating tumor cells and clusters as liquid biomarkers for the diagnosis and prognosis of neuroblastoma.BMC cancer · 2025Article
- Anaplastic Lymphoma Kinase Inhibition Therapy for Hereditary Neuroblastoma.JCO precision oncology · 2025Article
- 15 Years Old ALK Gene from Birth to Adolescence; Where to in NBL.Current oncology reports · 2025Review
- Exploring high-throughput drug sensitivity testing in neuroblastoma cell lines and patient-derived tumor organoids in the era of precision medicine.European journal of cancer (Oxford, England : 1990) · 2025Article
- Serially Quantifying TERT Rearrangement Breakpoints in ctDNA Enables Minimal Residual Disease Monitoring in Patients with Neuroblastoma.Cancer research communications · 2025Article
- Identification and Characterization of Chemotherapy-Resistant High-Risk Neuroblastoma Persister Cells.Cancer discovery · 2024Article
- Mutations in Mig6 reduce inhibition of the epidermal growth factor receptor.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma.Biomarker research · 2024Article
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Abstract
Neuroblastoma evolution, heterogeneity, and resistance remain inadequately defined, suggesting a role for circulating tumor DNA (ctDNA) sequencing. To define the utility of ctDNA profiling in neuroblastoma, 167 blood samples from 48 high-risk patients were evaluated for ctDNA using comprehensive genomic profiling. At least one pathogenic genomic alteration was identified in 56% of samples and 73% of evaluable patients, including clinically actionable ALK and RAS-MAPK pathway variants. Fifteen patients received ALK inhibition (ALKi), and ctDNA data revealed dynamic genomic evolution under ALKi therapeutic pressure. Serial ctDNA profiling detected disease evolution in 15 of 16 patients with a recurrently identified variant-in some cases confirming disease progression prior to standard surveillance methods. Finally, ctDNA-defined ERRFI1 loss-of-function variants were validated in neuroblastoma cellular models, with the mutant proteins exhibiting loss of wild-type ERRFI1's tumor-suppressive functions. Taken together, ctDNA is prevalent in children with high-risk neuroblastoma and should be followed throughout neuroblastoma treatment. SIGNIFICANCE: ctDNA is prevalent in children with neuroblastoma. Serial ctDNA profiling in patients with neuroblastoma improves the detection of potentially clinically actionable and functionally relevant variants in cancer driver genes and delineates dynamic tumor evolution and disease progression beyond that of standard tumor sequencing and clinical surveillance practices. See related commentary by Deubzer et al., p. 2727. This article is highlighted in the In This Issue feature, p. 2711.
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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.