Background: Ependymoma is a histologically defined central nervous system tumor most commonly occurring in childhood. Population-level incidence differences by race/ethnicity are observed, with individuals of European ancestry at highest risk. We aimed to determine whether extent of European genetic ancestry is associated with ependymoma risk in US populations.
Methods: In a multi-ethnic study of Californian children (327 cases, 1970 controls), we estimated the proportions of European, African, and Native American ancestry among recently admixed Hispanic and African American subjects and estimated European admixture among non-Hispanic white subjects using genome-wide data. We tested whether genome-wide ancestry differences were associated with ependymoma risk and performed admixture mapping to identify associations with local ancestry. We also evaluated race/ethnicity-stratified ependymoma incidence data from the Central Brain Tumor Registry of the United States (CBTRUS).
Results: CBTRUS data revealed that African American and Native American children have 33% and 36%, respectively, reduced incidence of ependymoma compared with non-Hispanic whites. In genetic analyses, a 20% increase in European ancestry was associated with a 1.31-fold higher odds of ependymoma among self-reported Hispanics and African Americans (95% CI: 1.08-1.59, Pmeta = 6.7 × 10-3). Additionally, eastern European ancestral substructure was associated with increased ependymoma risk in non-Hispanic whites (P = 0.030) and in Hispanics (P = 0.043). Admixture mapping revealed a peak at 20p13 associated with increased local European ancestry, and targeted fine-mapping identified a lead variant at rs6039499 near RSPO4 (odds ratio = 1.99; 95% CI: 1.45-2.73; P = 2.2 × 10-5) but which was not validated in an independent set of posterior fossa type A patients.
Conclusions: Interethnic differences in ependymoma risk are recapitulated in the genomic ancestry of ependymoma patients, implicating regions to target in future association studies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846152 | PMC |
| http://dx.doi.org/10.1093/neuonc/noaa130 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Impact of molecular classification on prognosis in children and adolescents with spinal ependymoma: Results from the HIT-MED database.
Neurooncol Adv
October 2024
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background: Ependymomas of the spinal cord are rare among children and adolescents, and the individual risk of disease progression is difficult to predict. This study aims to evaluate the prognostic impact of molecular typing on pediatric spinal cord ependymomas.
Methods: Eighty-three patients with spinal ependymomas ≤22 years registered in the HIT-MED database (German brain tumor registry for children, adolescents, and adults with medulloblastoma, ependymoma, pineoblastoma, and CNS-primitive neuroectodermal tumors) between 1992 and 2022 were included.
Pediatric Renal Cell Carcinoma (pRCC) Subpopulation Environmental Differentials in Survival Disadvantage of Black/African American Children in the United States: Large-Cohort Evidence.
Cancers (Basel)
November 2024
Global Health Equity Foundation, Bear, DE 19701, USA.
Article Synopsis
- Pediatric renal cell carcinoma (pRCC) is a rare, aggressive cancer in children with lower survival rates compared to other pediatric cancers, influenced by factors like sex, race, ethnicity, age, and socio-economic status.
- A retrospective study analyzed 174 pRCC cases from 1973 to 2015 to understand survival rates, identifying significant disparities, such as black/AA children being nearly three times more likely to die from the disease than white children.
- The study highlights the need for further research into socio-economic and demographic factors affecting pRCC outcomes, as well as exploring insufficiently studied determinants like area of residence.
Evaluating the safety and efficacy of proton radiotherapy for intracranial pediatric ependymomas: A single-arm meta-analysis.
J Clin Neurosci
December 2024
Department of Neurosurgery, State University of Campinas, Campinas, SP, Brazil.
Background: Ependymomas account for 6% to 10% of childhood central nervous system tumors. This study aimed to evaluate the safety and efficacy of proton radiotherapy in intracranial ependymoma patients.
Methods: We performed a systematic review and single-arm meta-analysis.
Development and Validation of a Predictive Nomogram for Patients With Myxopapillary Ependymoma: A Surveillance, Epidemiology, and End Results (SEER) Retrospective Cohort Analysis.
Global Spine J
November 2024
Department of Neurosurgery, Virginia Tech Carilion School of Medicine, Roanoke, VA, USA.
Study Design: Retrospective Study.
Objective: Myxopapillary ependymomas (MPEs) are a unique subgroup of spinal ependymomas originating from the filum terminale's ependymal glia. The 2021 WHO classification reclassified all MPEs as grade 2, recognizing their higher recurrence risk.
A rare case of posterior reversible encephalopathy syndrome following posterior fossa ependymoma resection a surgical case report.
Int J Surg Case Rep
December 2024
Port of Spain General Hospital, Port of Spain, Trinidad and Tobago.
Article Synopsis
- Posterior reversible encephalopathy syndrome (PRES) is a rare neurological condition that can occur after surgery, typically linked to fluctuations in blood pressure and certain medical conditions.* -
- A 24-year-old woman developed PRES after surgery for a brain tumor, experiencing symptoms like limb weakness and gaze deviation, which were addressed by a team of specialists.* -
- Key takeaway: Monitoring a patient's vital signs during and after surgery is crucial, as changes can lead to rare complications like PRES, highlighting the need for a collaborative medical approach.*
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!