ArticleNeuro-oncology2021
The genetic landscape of choroid plexus tumors in children and adults.
Article in Neuro-oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Risk Factors for Delayed Leptomeningeal Dissemination in Choroid Plexus Papillomas: A Systematic Review and Illustrative Case.Current oncology (Toronto, Ont.) · 2026Pooled it
- Overactivation of SHH signaling induces a cascade of dedifferentiation and oncogenesis in a new mouse model for choroid plexus carcinoma.Acta neuropathologica communications · 2026Article
- Choroid plexus carcinoma: state of the field and emerging directions.Oncogenesis · 2026Review
- Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.Cell death & disease · 2026Article
- Modeling pediatric brain tumors with human stem cells.Frontiers in cellular neuroscience · 2026Review
- Histological and molecular characterization of endolymphatic sac tumor reveals key differences from its primary differential diagnosis, choroid plexus papilloma.Histology and histopathology · 2025Article
- SOX2 commands LIM homeobox transcription factors in choroid plexus development and tumorigenesis.Neuro-oncology · 2025Article
- Outcome-associated factors in a molecularly defined cohort of central neurocytoma.Acta neuropathologica · 2025Article
- Purines and purinergic receptors in primary tumors of the central nervous system.Purinergic signalling · 2025Article
- Choroid plexus tumors in adults: a retrospective mono-institutional study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus.Neuro-oncology · 2025Article
- A malignant choroid plexus tumor with heterologous differentiation and BAP1 deletion suggesting choroid plexus blastoma.Free neuropathology · 2025Article
- Single-nucleus RNA-seq dissection of choroid plexus tumor cell heterogeneity.The EMBO journal · 2024Article
- Diagnosis of choroid plexus papilloma: Current perspectives and future directions.Cancer pathogenesis and therapy · 2024Review
- Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma.Acta neuropathologica communications · 2024Article
- Developing a nomogram based on SEER database for predicting prognosis in choroid plexus tumors.Scientific reports · 2024Article
- The composition of choroid plexus tumor research: a bibliometric analysis of the 100 most impactful studies to date.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- A rare trifocal presentation of a choroid plexus papilloma: Case report and review of the literature.Brain & spine · 2024Review
- Pediatric-Like Brain Tumors in Adults.Advances and technical standards in neurosurgery · 2024Review
- Atypical choroid plexus papilloma: Diagnosis and differentials: A case report.SAGE open medical case reports · 2024Article
Corrections and comments
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Authors and funding
30 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChoroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs).
methodsDNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively.
resultsTumors comprised the molecular subgroups "pediatric A" (N=11), "pediatric B" (N=12) and "adult" (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in "pediatric B" and gains of Chr5 and 9 and loss of Chr21q in "adult"). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15%), five of which were children. On the contrary, TERT promoter mutations were encountered in 7/28 adult patients (25%) and associated with shorter progression-free survival (log-rank test, p=0.015).
conclusionPediatric CPTs lack recurrent driver alterations except for TP53, whereas CPTs in adults show TERT promoter mutations or a novel CCDC47-PRKCA gene fusion, being associated with a more unfavorable clinical course.
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