Choroid Plexus Tumors
2024-11-04 Scott Ryall, PhD Affiliation1.Brigham and Women's Hospital, Harvard Medical School, Boston , MA (USA)
Classification
Definition
Choroid plexus tumors (CPT) are rare tumors of the central nervous system (CNS) that originate from the choroid plexus epithelium. They are most common in children, accounting for up to 20% of brain tumors in patients ≤2 years old. 1,2 CPT typically arise in the ventricles and their primary site of occurrence varies with age; lateral ventricles (most often in the atrium) in children and the fourth ventricle or (rarely) the cerebellopontine angle in adults. 3
The World Health Organization (WHO) recognizes 3 CPT entities: i) choroid plexus papilloma, ii) atypical choroid plexus papilloma, and iii) choroid plexus carcinoma. Additional details are described in the 2021 WHO Classification of Tumors of the Central Nervous System.
| Choroid Plexus Tumors | Genetic Event(s) |
|---|---|
| Choroid Plexus Papilloma (CPP) | Choroid plexus papilloma (CPP) is primarily (>70%) diangosed within the first two years of life with an approximate median age of diagnosis of 3-4 years (0-51 years) 4,5 Hyperdiploidy in CPP is common with frequent chromosomal gains including, but not limited to, chromosomes 7, 8, 9, 11, 12, 18, and 20. 6-9 Infrequent losses are most commonly observed in chromosomes 10 and 21. 6-9 The pathogenic impact of these chromosomal alterations are, as of yet, not fully understood. TP53 mutations, including germline variants associated with Li-Fraumeni syndrome OMIM:151623 are rare in CPP at approximately 10%. 9,10 Other syndromic associations with CPP include Aicardi Syndrome OMIM:304050 11, hypomelanosis of Ito OMIM:300337, 12,13 and constitutional 9p duplication 14,15. DNA methylation analysis segregates CPP into 3 distinct clusters of which CPP and Choroid Plexus Carcinoma (CPC) remain separate despite some overlap between CPP and atypical CPP 16-18 |
| Atypical Choroid Plexus Papilloma (aCPP) | The median age at diagnosis of atypical choroid plexus papilloma (aCPP) is approximately 1 year (0-11 years). 19,20 The genetic features of aCPP mimic those seen in CPP and include hyperdiploidy with frequent chromosomal gains including, but not limited to, chromosomes 7, 8, 9, 11, 12, 18, and 20 and losses in chromosomes 10 and 21. 6-9 Likewise, rare TP53 mutations, some in the context of Li-Fraumeni syndrome, have been reported. 9,10 DNA methylation analysis segregates CPP into 3 distinct clusters of which aCPP and CPP display some overlap given their diagnostic similarities. 16-18 |
| Choroid Plexus Carcinoma (CPC) | The median age at diagnosis of choroid plexus carcinoma (CPC) is approximately 3-4 years (0-72 years) with infratentorial and supratentorial tumors typically arising in adults and young children, respectively. 21 Germline mutations in TP53 have been reported in up to 50% of CPC. 9,10 Further, the combination of the TP53 codon72 variant and the MDM2 SNP309 polymorphism, two sequence variants known to confer TP53 dysfunction, have been shown in >90% of TP53 wildtype CPC implicating universal TP53 dysfunction. 10 Elevated genomic instability in CPC has been detected using classic cytogenetic and array-based approaches 7-9,22,23 and are related to the patient's age with, for example, pediatric CPC often showing hypodiploidy . 23 DNA methylation analysis classifies CPC as a distinct molecular classification unique to both CPP and aCPP. 16-18 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 21970783 | 2012 | Choroid plexus tumors in pediatric patients. | Ogiwara H et al |
| 2 | 20809071 | 2011 | Choroid plexus tumors in children less than 36 months: the Canadian Pediatric Brain Tumor Consortium (CPBTC) experience. | Lafay-Cousin L et al |
| 3 | 26500797 | 2015 | Case series of choroid plexus papilloma in children at uncommon locations and review of the literature. | Prasad GL et al |
| 4 | 25270349 | 2015 | Choroid plexus tumor epidemiology and outcomes: implications for surgical and radiotherapeutic management. | Cannon DM et al |
| 5 | 28290001 | 2017 | Choroid plexus tumors in adult and pediatric populations: the Cleveland Clinic and University Hospitals experience. | Bahar M et al |
| 6 | 7533531 | 1994 | Chromosome aberrations in choroid plexus papillomas. | Donovan MJ et al |
| 7 | 11891207 | 2002 | Chromosomal imbalances in choroid plexus tumors. | Rickert CH et al |
| 8 | 25336695 | 2015 | Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups. | Merino DM et al |
| 9 | 25575132 | 2015 | High-resolution genomic analysis does not qualify atypical plexus papilloma as a separate entity among choroid plexus tumors. | Japp AS et al |
| 10 | 20308654 | 2010 | TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. | Tabori U et al |
| 11 | 15737696 | 2005 | Aicardi syndrome. | Aicardi J et al |
| 12 | 9195154 | 1997 | Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. | Zajac V et al |
| 13 | 22793165 | 2012 | Choroid plexus papilloma in a girl with hypomelanosis of Ito. | Morigaki R et al |
| 14 | 29895553 | 2018 | 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. | Furey C et al |
| 15 | 8736601 | 1995 | Duplication of 9P and hyperplasia of the choroid plexus: a pathologic, radiologic, and molecular cytogenetics study. | Norman MG et al |
| 16 | 26826203 | 2016 | Methylation profiling of choroid plexus tumors reveals 3 clinically distinct subgroups. | Thomas C et al |
| 17 | 31639040 | 2019 | Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. | Pienkowska M et al |
| 18 | 29539639 | 2018 | DNA methylation-based classification of central nervous system tumours. | Capper D et al |
| 19 | 25935663 | 2015 | Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. | Thomas C et al |
| 20 | 28677107 | 2017 | A French retrospective study on clinical outcome in 102 choroid plexus tumors in children. | Siegfried A et al |
| 21 | 12402146 | 2002 | Choroid plexus tumours. | Wolff JE et al |
| 22 | 15642401 | 2005 | Mutational analysis of hSNF5/INI1 and TP53 genes in choroid plexus carcinomas. | Zakrzewska M et al |
| 23 | 24478045 | 2014 | Choroid plexus carcinomas are characterized by complex chromosomal alterations related to patient age and prognosis. | Ruland V et al |
Citation
Scott Ryall, PhD
Choroid Plexus Tumors
Atlas Genet Cytogenet Oncol Haematol. 2024-11-04
Online version: http://atlasgeneticsoncology.org/solid-tumor/209287/choroid-plexus-tumors
