Trial reportJAMA2012
Association of age at diagnosis and genetic mutations in patients with neuroblastoma.
Trial report in JAMA, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 254 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Molecular Characterization of Neuroblastic Tumor: Correlation With Clinical Outcome
Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy
Who cites it
254 citing papers in PubMed, 1 synthesis or guideline pooled it, 467 citations in OpenAlex.
- Research status and development trends of omics in neuroblastoma a bibliometric and visualization analysis.Frontiers in oncology · 2024Pooled it
- Differentiation of early relapse and late relapse in intermediate- and high-risk neuroblastoma with anAbdominal radiology (New York) · 2024Trial
- Trial
- Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Genome medicine · 2016Trial
- Frequency and Prognostic Significance of Genetic Abnormalities in a Subgroup of Patients With Intermediate-Risk Neuroblastoma: A SIOPEN Study.JCO precision oncology · 2026Article
- ATRX inactivation disrupts global chromatin state and topology to dysregulate neurodevelopmental pathways in glioma pathogenesis.Nucleic acids research · 2026Article
- The landscape of structural variation in pediatric cancer.Cancer cell · 2026Article
- Telomere maintenance mechanisms are activated in ganglioneuroblastoma and ganglioneuroma.Oncology letters · 2026Article
- ATRX loss in sarcomas is associated with dysregulated gene and transposable element expression, loss of DNA methylation, and worse survival.ESMO rare cancers · 2026Article
- Pathology of peripheral neuroblastic tumors.Diagnostic pathology · 2026Review
- Article
- Sequential Combination of Unfavorable Histology, Followed by Clinical Stage M, Defines High-Risk Neuroblastoma: A Report from the Children's Oncology Group.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- ATRX large deletions and truncating mutations are associated with primary induction chemotherapy resistance in high-risk neuroblastoma: a multicenter propensity-weighted cohort study.Frontiers in oncology · 2026Article
- Regulatory Relationships between DNA Methylation and Long Noncoding RNAs in Neuroblastoma.Current medicinal chemistry · 2026Review
- Epigenetic crosstalk in neuroblastoma development and progression.Frontiers in cell and developmental biology · 2026Review
- The chromatin guardian ATRX is a strong prognostic biomarker in melanoma.Scientific reports · 2025Article
- ATRX loss in sarcomas is associated with dysregulated gene and transposable element expression, loss of DNA methylation, and worse survival.medRxiv : the preprint server for health sciences · 2025Article
- Association of genetic variants in mBMC cancer · 2025Article
- G-quadruplex stabilizer CX-5461 effectively combines with radiotherapy to target α-thalassemia/mental retardation X-linked-deficient malignant glioma.Neuro-oncology · 2025Article
- The landscape of structural variation in pediatric cancer.bioRxiv : the preprint server for biology · 2025Article
194 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 1 institution in 1 country.
Funding
Abstract
contextNeuroblastoma is diagnosed over a wide age range from birth through young adulthood, and older age at diagnosis is associated with a decline in survivability.
objectiveTo identify genetic mutations that are associated with age at diagnosis in patients with metastatic neuroblastoma. DESIGN, SETTING, AND PATIENTS: Whole genome sequencing was performed on DNA from diagnostic tumors and their matched germlines from 40 patients with metastatic neuroblastoma obtained between 1987 and 2009. Age groups at diagnosis included infants (0-<18 months), children (18 months-<12 years), and adolescents and young adults (≥12 years). To confirm the findings from this discovery cohort, validation testing using tumors from an additional 64 patients obtained between 1985 and 2009 also was performed. Formalin-fixed, paraffin-embedded tumor tissue was used for immunohistochemistry and fluorescence in situ hybridization. Telomere lengths were analyzed using whole genome sequencing data, quantitative polymerase chain reaction, and fluorescent in situ hybridization.
main outcome measureSomatic recurrent mutations in tumors from patients with neuroblastoma correlated with the age at diagnosis and telomere length.
resultsIn the discovery cohort (n = 40), mutations in the ATRX gene were identified in 100% (95% CI, 50%-100%) of tumors from patients in the adolescent and young adult group (5 of 5), in 17% (95% CI, 7%-36%) of tumors from children (5 of 29), and 0% (95% CI, 0%-40%) of tumors from infants (0 of 6). In the validation cohort (n = 64), mutations in the ATRX gene were identified in 33% (95% CI, 17%-54%) of tumors from patients in the adolescent and young adult group (9 of 27), in 16% (95% CI, 6%-35%) of tumors from children (4 of 25), and in 0% (95% CI, 0%-24%) of tumors from infants (0 of 12). In both cohorts (N = 104), mutations in the ATRX gene were identified in 44% (95% CI, 28%-62%) of tumors from patients in the adolescent and young adult group (14 of 32), in 17% (95% CI, 9%-29%) of tumors from children (9 of 54), and in 0% (95% CI, 0%-17%) of tumors from infants (0 of 18). ATRX mutations were associated with an absence of the ATRX protein in the nucleus and with long telomeres.
conclusionATRX mutations were associated with age at diagnosis in children and young adults with stage 4 neuroblastoma.
trial registrationclinicaltrials.gov Identifier: NCT00588068.
Indexed as
Identifiers
What OpenQuestion holds
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.