Materiały źródłowe

• #1 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #2 :: BTRT :: Brain Tumor Research and Treatment

  https://btrt.org/DOIx.php?id=10.14791/btrt.2019.7.e23

  Choroid plexus tumors are rare, accounting for only 0.30.6% of all brain tumors and 1020% of those in infants. Choroid plexus tumors include choroid plexus papilloma (CPP), atypical CPP, and choroid plexus carcinoma (CPC). Of these subtypes, CPCs are the most aggressive and malignant at a World Health Organization grade III. CPC primarily occurs in children, and the median age of patients with CPC is 3 years, highlighting the rarity of adult-onset CPC. As CPC is derived from choroid plexus epithelium, it usually presents with cerebrospinal fluid (CSF) obstruction and progresses through CSF metastasis. Mechanical obstruction of the CSF is a common cause of symptoms, including headache, diplopia, and ataxia, and is followed by hydrocephalus. […] The extent of tumor removal is associated with significantly superior overall survival (OS); whereas, the effect of adjuvant chemotherapy or radiotherapy on OS remains controversial.

• #3 Choroid plexus carcinoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/choroid-plexus-carcinoma/symptoms-causes/syc-20578760

  Choroid plexus carcinoma is a rare type of brain cancer that happens mainly in children. […] It’s not clear what causes most choroid plexus carcinomas. This cancer starts as a growth of cells in the brain. […] Choroid plexus carcinoma happens when cells in the brain develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of choroid plexus carcinoma include: Young age. Choroid plexus carcinoma can happen at any age. This brain cancer happens most often in children under 2 years old. […] Some choroid plexus carcinomas are linked to certain genetic changes that can run in families, such as with Li-Fraumeni syndrome.

• #4 Choroid Plexus Carcinoma: Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/choroid-plexus-carcinoma

  Choroid plexus carcinoma is a rare, aggressive brain cancer that most often affects infants and children. […] Medical experts arent sure why some people develop choroid plexus carcinoma. Cancers, in general, occur when a gene changes or mutates. This change causes diseased cells to rapidly grow and spread. […] Anyone can develop choroid plexus carcinoma. But these factors may increase your risk: Aicardi syndrome: Children born with Aicardi syndrome have unusual brain changes that may increase their risk of choroid plexus tumors. An unknown gene change (mutation) causes this condition. It isnt a condition passed down through families (inherited). […] Li-Fraumeni syndrome: People who have a rare genetic condition called Li-Fraumeni syndrome are more prone to developing cancers. Most people inherit a gene change from a biological parent that causes this condition. […] Biological sex: For unknown reasons, women are slightly more at risk.

• #5 Choroid Plexus Tumor: Diagnosis and Treatment – NCI

  https://www.cancer.gov/rare-brain-spine-tumor/tumors/choroid-plexus-tumors

  Choroid plexus tumors are primary central nervous system (CNS) tumors. This means they begin in the brain or spinal cord. […] The cause of most choroid plexus tumors is not known. Genetic changes, notably mutation of the TP53 gene, have been linked to the formation of grade 3 choroid plexus carcinomas in about 50 percent of cases. Rarely, certain genetic changes that can be passed down through families have been linked to a higher chance of developing choroid plexus carcinomas.

• #6 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #7 Choroid Plexus – American Brain Tumor Association | Learn More

  https://www.abta.org/tumor_types/choroid-plexus/

  Patients with Li Fraumeni syndrome (a germline or constitutional mutation in the TP53 gene) are at much higher risk of developing choroid plexus carcinoma than the average population. […] TP53 mutations are common in choroid plexus carcinoma and are associated with a worse prognosis.

• #8 Choroid plexus tumors of childhood | MedLink Neurology

  https://www.medlink.com/articles/choroid-plexus-tumors-of-childhood

  Notch 3 signaling, the transcription factor TWIST1, platelet-derived growth factor receptor, and the tumor necrosis factor-related apoptosis-inducing ligand pathway have also been implicated in papilloma tumorigenesis. […] Methylation profiling has demonstrated three distinct subgroups: cluster 1 consisting of low risk tumors that contained primarily choroid plexus papillomas and atypical papillomas occurring in young children, primarily in the supratentorial space and having an excellent prognosis; cluster 2 arising in adulthood with predominant infratentorial origin and intermediate to excellent prognosis; and cluster 3, also found most commonly in the supratentorial space of young children, consisting of choroid plexus carcinomas, papillomas, and atypical papillomas. […] Furthermore, choroid plexus carcinomas clustered on DNA methylation profiles with homozygous TP53 mutations separately from those with heterozygous TP53 mutation or wild type TP53 and had the worst prognosis.

• #9 Choroid Plexus Carcinoma – DoveMed

  https://www.dovemed.com/diseases-conditions/choroid-plexus-carcinoma

  About 50% of CPCs have mutations in the TP53 gene. Abnormal PDGFR and NOTCH3 gene activation has been noted. Mutations correlating with the associated genetic disorders, if any, may be identified. […] Simian virus 40 DNA has been detected in nearly 50% of the tumors. However, the significance of the presence of this viral DNA in the tumor is currently unknown.

• #10 Plexus tumor | Neurosurgery Inselspital Bern

  https://neurochirurgie.insel.ch/en/what-we-treat/brain-tumor/plexus-tumor

  Plexus tumor usually develops sporadically. However, patients with Li-Fraumeni syndrome are known to develop choroid plexus carcinoma more frequently. The cause is thought to be a TP53 mutation. This mutation of the tumor suppressor protein TP53 can also occur in other genetic diseases or sporadically. […] Apart from hereditary factors, alterations of certain genes or chromosomes seem to play an important role in the development of plexus tumors. Modern genetic analyses have identified 6 corresponding genes (TWIST1, WIF1, AJAP1, BCLAF1, TRPM3, IL6ST). […] Also, a connection with a specific signal transduction pathway is discussed, which is involved in the development of gliomas and embryonic tumors. This is known as the Notch pathway. […] Furthermore, the methylation of certain gene segments is being investigated, which is associated with the loss of a tumor suppression function.

• #11 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Choroid plexus papillomas are associated with the Li-Fraumeni cancer syndrome (an autosomal dominant syndrome characterized by a germline mutation in the TP53 gene) and the Aicardi syndrome (a rare X-linked dominant condition observed in females, characterized by visual impairment, developmental delay, and seizures). […] Both somatic and germline abnormalities that involve multiple genetic loci have been associated with the development of choroid plexus tumors. Genomic hybridization data show that choroid plexus papilloma and choroid plexus carcinoma have characteristic chromosomal additions and deletions, which suggests that the genetic basis for these tumors is distinct. […] The polyoma viruses SV40, JC, and BK have been implicated in the development of choroid plexus tumors. Choroid plexus tumors have been induced experimentally in transgenic mice by using the polyomavirus common gene product, T antigen. The mechanism is thought to involve binding of T antigen with both pRb and p53 tumor suppressor proteins, as these complexes have been identified in humans with choroid plexus tumors.

• #12 Choroid plexus tumors of childhood | MedLink Neurology

  https://www.medlink.com/articles/choroid-plexus-tumors-of-childhood

  Notch 3 signaling, the transcription factor TWIST1, platelet-derived growth factor receptor, and the tumor necrosis factor-related apoptosis-inducing ligand pathway have also been implicated in papilloma tumorigenesis. […] Methylation profiling has demonstrated three distinct subgroups: cluster 1 consisting of low risk tumors that contained primarily choroid plexus papillomas and atypical papillomas occurring in young children, primarily in the supratentorial space and having an excellent prognosis; cluster 2 arising in adulthood with predominant infratentorial origin and intermediate to excellent prognosis; and cluster 3, also found most commonly in the supratentorial space of young children, consisting of choroid plexus carcinomas, papillomas, and atypical papillomas. […] Furthermore, choroid plexus carcinomas clustered on DNA methylation profiles with homozygous TP53 mutations separately from those with heterozygous TP53 mutation or wild type TP53 and had the worst prognosis.

• #13 Choroid Plexus Tumors in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/choroid-plexus-tumor.html

  Choroid plexus carcinoma (CPC) is a cancerous form of choroid plexus tumor. It grows faster. It is more likely to spread through the cerebrospinal fluid to other tissues. About 10-20% of choroid plexus tumors are CPC. […] Increased risk for choroid plexus carcinoma is associated with Li-Fraumeni syndrome, an inherited syndrome. […] Choroid plexus carcinoma is a more aggressive cancer. Most of these patients will receive many types of treatments. […] Choroid plexus carcinoma generally is cancerous, typically Grade III, more aggressive, and can grow rapidly.

• #14 Childhood Choroid Plexus Tumor | Dana-Farber Cancer Institute

  https://www.dana-farber.org/cancer-care/types/childhood-choroid-plexus-tumor

  Li-Fraumeni syndrome, a rare genetic condition, is associated with choroid plexus carcinoma. If your child has choroid plexus carcinoma, their doctor will discuss genetic testing for Li-Fraumeni syndrome. […] Choroid plexus carcinoma: It accounts for between 10 to 20 percent of all childhood choroid plexus tumors. It grows aggressively and is more likely to spread. […] In children with choroid plexus carcinoma, the goal is to remove as much of the tumor as possible. However, they will typically need additional treatment. […] Children with choroid plexus carcinoma typically need additional treatment after surgery. The survival rate after surgery is 60 to 65 percent.

• #15 Choroid Plexus Carcinoma: Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/choroid-plexus-carcinoma

  Choroid plexus carcinoma is a rare, aggressive brain cancer that most often affects infants and children. […] Medical experts arent sure why some people develop choroid plexus carcinoma. Cancers, in general, occur when a gene changes or mutates. This change causes diseased cells to rapidly grow and spread. […] Anyone can develop choroid plexus carcinoma. But these factors may increase your risk: Aicardi syndrome: Children born with Aicardi syndrome have unusual brain changes that may increase their risk of choroid plexus tumors. An unknown gene change (mutation) causes this condition. It isnt a condition passed down through families (inherited). […] Li-Fraumeni syndrome: People who have a rare genetic condition called Li-Fraumeni syndrome are more prone to developing cancers. Most people inherit a gene change from a biological parent that causes this condition. […] Biological sex: For unknown reasons, women are slightly more at risk.

• #16 Choroid Plexus Tumors | UCSF Brain Tumor Center

  https://braintumorcenter.ucsf.edu/condition/choroid-plexus-tumors

  Choroid plexus carcinoma, although relatively rare, is more common in patients with Li-Fraumani syndrome, a rare genetic disorder that increases risk for a variety of cancers. […] For patients with choroid plexus carcinoma, long-term outcomes depend on a variety of factors, including the size and location of the tumor, whether it spread (or metastasized) to other brain regions, and whether it was completely removed during surgery. […] However, patients with choroid plexus carcinoma often require more aggressive treatments, such as chemotherapy and/or radiation after surgery.

• #17 Choroid plexus tumors of childhood | MedLink Neurology

  https://www.medlink.com/articles/choroid-plexus-tumors-of-childhood

  Carcinomas may occur as part of the familial Li-Fraumeni syndrome, which is an autosomal dominant disorder caused by a germ-line mutation in the TP53 gene on chromosome 17p13. […] In one series of 42 children, six (16.7%) had phenotypic or genotypic characteristics consistent with Li-Fraumeni syndrome. […] Four of 11 with choroid plexus carcinomas were positive for TP53 germline mutations. […] Another series also found an association with TP53 germline mutations and choroid plexus carcinomas. […] The molecular biology of choroid plexus tumors is being elucidated. […] Transgenic mouse models have increased the understanding of choroid plexus carcinomas. […] The majority of choroid plexus carcinomas harbor TP53 mutations, and those tumors that have two mutant copies are the most likely to be aggressive and result in poorer survival.

• #18 Choroid Plexus Brain Tumor | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/choroid-plexus-brain-tumor

  Choroid plexus carcinoma (CPCs) grow more aggressively and are more likely to spread than either APPs or CPPs. CPCs are less common, accounting for 25-35 percent of all choroid plexus tumors. […] As a parent, you undoubtedly want to know what may have caused your child’s tumor. It’s important to understand that these and other brain tumors most often occur with no known cause. There’s nothing that you could have done or avoided doing that would have prevented the tumor from developing. […] One rare genetic disease called Li-Fraumeni syndrome can be associated with choroid plexus tumors. If your child has a choroid plexus tumor their doctors will talk to you about genetic testing for Li-Fraumeni syndrome.

• #19 Childhood Choroid Plexus Tumor | Dana-Farber Cancer Institute

  https://www.dana-farber.org/cancer-care/types/childhood-choroid-plexus-tumor

  Li-Fraumeni syndrome, a rare genetic condition, is associated with choroid plexus carcinoma. If your child has choroid plexus carcinoma, their doctor will discuss genetic testing for Li-Fraumeni syndrome. […] Choroid plexus carcinoma: It accounts for between 10 to 20 percent of all childhood choroid plexus tumors. It grows aggressively and is more likely to spread. […] In children with choroid plexus carcinoma, the goal is to remove as much of the tumor as possible. However, they will typically need additional treatment. […] Children with choroid plexus carcinoma typically need additional treatment after surgery. The survival rate after surgery is 60 to 65 percent.

• #20 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #21 Choroid Plexus Carcinoma – DoveMed

  https://www.dovemed.com/diseases-conditions/choroid-plexus-carcinoma

  Choroid Plexus Carcinoma is a malignant choroid plexus tumor that develops in young children. These tumors may be sporadic or develop following a malignant progression of atypical choroid plexus papillomas. […] The cause of formation of Choroid Plexus Carcinoma is not well-established. It is reported that a combination of several factors may play a role in their formation, including genetic, environmental, and lifestyle-related. The risk factors may include the presence of certain genetic disorders such as Aicardi syndrome and Li-Fraumeni syndrome. […] The exact cause of development of Choroid Plexus Carcinoma is not well-understood. Research scientists believe that the cause may involve a combination of several factors including genetic, environmental, and occupational factors. The carcinoma may develop spontaneously, or progress from a lower grade choroid plexus tumor.

• #22

  https://link.springer.com/article/10.1007/s42399-025-01831-5

  Some cases have been linked to Li-Fraumeni syndrome, an autosomal dominant disorder with P53 mutations and BCOR gene alterations. […] Furthermore, the literature also suggests that CPC could be a neurological manifestation of Lynch syndrome, be associated with synchronous tumors, or even result from viral infections such as SV40, JC, or BK polyomaviruses, along with genetic factors such as P53 suppression. […] Adjuvant therapy seems to be important for disease-free progression, but it has not had an impact on survival, and currently, there is no consensus or treatment regimens.

• #23 Choroid Plexus Papilloma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539749/

  The etiology of choroid plexus papillomas is undetermined. Neonatal choroid plexus papillomas are thought to be congenital. Some studies have demonstrated an association between simian virus 40 (SV40) and the occurrence of choroid plexus tumors. BK virus and John Cunningham (JC) viruses have also been implicated. Complexes of SV40 large T antigen and TP53 and Rb proteins have been identified in humans with choroid plexus tumors. The R248W mutation of TP53 is one of the most common mutations in choroid plexus tumors, but current data do not support a causative role. […] In contrast, the rarely encountered choroid plexus carcinoma is classified as World Health Organization grade III. The presence of 4 or more of the following malignant histopathological characteristics is indicative of choroid plexus carcinoma: brisk mitotic activity (5 mitoses per 10 high-power fields), nuclear pleomorphism, high cellularity, blurring of the papillary growth pattern, and necrosis.

• #24 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Choroid plexus papillomas are associated with the Li-Fraumeni cancer syndrome (an autosomal dominant syndrome characterized by a germline mutation in the TP53 gene) and the Aicardi syndrome (a rare X-linked dominant condition observed in females, characterized by visual impairment, developmental delay, and seizures). […] Both somatic and germline abnormalities that involve multiple genetic loci have been associated with the development of choroid plexus tumors. Genomic hybridization data show that choroid plexus papilloma and choroid plexus carcinoma have characteristic chromosomal additions and deletions, which suggests that the genetic basis for these tumors is distinct. […] The polyoma viruses SV40, JC, and BK have been implicated in the development of choroid plexus tumors. Choroid plexus tumors have been induced experimentally in transgenic mice by using the polyomavirus common gene product, T antigen. The mechanism is thought to involve binding of T antigen with both pRb and p53 tumor suppressor proteins, as these complexes have been identified in humans with choroid plexus tumors.

• #25 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #26 Choroid Plexus Carcinoma – DoveMed

  https://www.dovemed.com/diseases-conditions/choroid-plexus-carcinoma

  About 50% of CPCs have mutations in the TP53 gene. Abnormal PDGFR and NOTCH3 gene activation has been noted. Mutations correlating with the associated genetic disorders, if any, may be identified. […] Simian virus 40 DNA has been detected in nearly 50% of the tumors. However, the significance of the presence of this viral DNA in the tumor is currently unknown.

• #27 Choroid Plexus Papilloma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539749/

  The etiology of choroid plexus papillomas is undetermined. Neonatal choroid plexus papillomas are thought to be congenital. Some studies have demonstrated an association between simian virus 40 (SV40) and the occurrence of choroid plexus tumors. BK virus and John Cunningham (JC) viruses have also been implicated. Complexes of SV40 large T antigen and TP53 and Rb proteins have been identified in humans with choroid plexus tumors. The R248W mutation of TP53 is one of the most common mutations in choroid plexus tumors, but current data do not support a causative role. […] In contrast, the rarely encountered choroid plexus carcinoma is classified as World Health Organization grade III. The presence of 4 or more of the following malignant histopathological characteristics is indicative of choroid plexus carcinoma: brisk mitotic activity (5 mitoses per 10 high-power fields), nuclear pleomorphism, high cellularity, blurring of the papillary growth pattern, and necrosis.

• #28 Choroid plexus tumours

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2376189/

  Choroid plexus tumours are rare epithelial brain tumours and limited information is available regarding their biology and the best treatment. […] The etiology of some choroid plexus tumours has been linked to SV40 infections, but it might also be influenced by other factors such as X-chromosome linked syndromes. […] We found significant differences when relating gender to age at diagnosis, tumour location or pathology. […] This could suggest a tumour entity linked to a tumour-suppressor gene located on the X-chromosome. […] Interestingly, the syndromes with defects on the X-chromosome were reported with choroid plexus papilloma. […] Based on this analysis we hypothesised that SV40 is more frequently found in infant tumours and that there is a distinctly different aetiology in adult choroid plexus tumours.

• #29 Choroid plexus tumours | British Journal of Cancer

  https://www.nature.com/articles/6600609

  Choroid plexus tumours are rare epithelial brain tumours and limited information is available regarding their biology and the best treatment. […] The etiology of some choroid plexus tumours has been linked to SV40 infections, but it might also be influenced by other factors such as X-chromosome linked syndromes. […] Cerebello-pontine angle tumours were associated with older age, benign histology, and female gender. […] Interestingly, the report about SV40 in choroid plexus tumours described children only. Based on this analysis we hypothesised that SV40 is more frequently found in infant tumours and that there is a distinctly different aetiology in adult choroid plexus tumours.

• #30 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Choroid plexus papillomas arise from the single layer of cuboidal epithelial cells lining the papillae of the choroid plexus. The choroid plexus is associated with the ventricular lining of the body, trigone, and inferior horn of the lateral ventricles; the foramen of Monro; the roof of the third ventricle; and the posterior portion of the roof of the fourth ventricle. Typical locations of the normal choroid plexus correspond to the most common sites for occurrence of CPP. […] One study points to the role of a transmembrane receptor protein (Notch3) in the pathogenesis of human choroid plexus tumors. The Notch pathway helps regulate development of the mammalian nervous system, and activation of the Notch pathway has been increasingly recognized in human cancers. Notch3 is expressed in ventricular zone progenitor cells in the fetal brain and, when activated, can function as an oncogene.

• #31 Plexus tumor | Neurosurgery Inselspital Bern

  https://neurochirurgie.insel.ch/en/what-we-treat/brain-tumor/plexus-tumor

  Plexus tumor usually develops sporadically. However, patients with Li-Fraumeni syndrome are known to develop choroid plexus carcinoma more frequently. The cause is thought to be a TP53 mutation. This mutation of the tumor suppressor protein TP53 can also occur in other genetic diseases or sporadically. […] Apart from hereditary factors, alterations of certain genes or chromosomes seem to play an important role in the development of plexus tumors. Modern genetic analyses have identified 6 corresponding genes (TWIST1, WIF1, AJAP1, BCLAF1, TRPM3, IL6ST). […] Also, a connection with a specific signal transduction pathway is discussed, which is involved in the development of gliomas and embryonic tumors. This is known as the Notch pathway. […] Furthermore, the methylation of certain gene segments is being investigated, which is associated with the loss of a tumor suppression function.

• #32 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Choroid plexus papillomas arise from the single layer of cuboidal epithelial cells lining the papillae of the choroid plexus. The choroid plexus is associated with the ventricular lining of the body, trigone, and inferior horn of the lateral ventricles; the foramen of Monro; the roof of the third ventricle; and the posterior portion of the roof of the fourth ventricle. Typical locations of the normal choroid plexus correspond to the most common sites for occurrence of CPP. […] One study points to the role of a transmembrane receptor protein (Notch3) in the pathogenesis of human choroid plexus tumors. The Notch pathway helps regulate development of the mammalian nervous system, and activation of the Notch pathway has been increasingly recognized in human cancers. Notch3 is expressed in ventricular zone progenitor cells in the fetal brain and, when activated, can function as an oncogene.

• #33 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Research has also demonstrated differential expression of several genes in choroid papilloma tumor cells using DNA microarray techniques on cells from 7 choroid plexus papillomas. Among the abnormalities identified was up-regulation of the TWIST-1 transcription factor, which was shown to promote proliferation and in vitro invasion. TWIST-1 is involved in the p53 tumor suppressor pathway as an inhibitor. […] Genetic analysis of 62 cases of choroid plexus tumors revealed frequent hyperdiploidy in CPPs. Recurrent gains of foci harboring the genes OTX, LAMB1, and TRPM3 were found in all cases in this series.

• #34 Choroid plexus tumors of childhood | MedLink Neurology

  https://www.medlink.com/articles/choroid-plexus-tumors-of-childhood

  Notch 3 signaling, the transcription factor TWIST1, platelet-derived growth factor receptor, and the tumor necrosis factor-related apoptosis-inducing ligand pathway have also been implicated in papilloma tumorigenesis. […] Methylation profiling has demonstrated three distinct subgroups: cluster 1 consisting of low risk tumors that contained primarily choroid plexus papillomas and atypical papillomas occurring in young children, primarily in the supratentorial space and having an excellent prognosis; cluster 2 arising in adulthood with predominant infratentorial origin and intermediate to excellent prognosis; and cluster 3, also found most commonly in the supratentorial space of young children, consisting of choroid plexus carcinomas, papillomas, and atypical papillomas. […] Furthermore, choroid plexus carcinomas clustered on DNA methylation profiles with homozygous TP53 mutations separately from those with heterozygous TP53 mutation or wild type TP53 and had the worst prognosis.

• #35 Choroid plexus carcinoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/choroid-plexus-carcinoma/symptoms-causes/syc-20578760

  Choroid plexus carcinoma is a rare type of brain cancer that happens mainly in children. […] It’s not clear what causes most choroid plexus carcinomas. This cancer starts as a growth of cells in the brain. […] Choroid plexus carcinoma happens when cells in the brain develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of choroid plexus carcinoma include: Young age. Choroid plexus carcinoma can happen at any age. This brain cancer happens most often in children under 2 years old. […] Some choroid plexus carcinomas are linked to certain genetic changes that can run in families, such as with Li-Fraumeni syndrome.

• #36 Choroid plexus carcinoma | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/choroid-plexus-carcinoma

  Choroid plexus carcinoma happens when cells in the brain develop changes in their DNA. […] It’s not clear what causes most choroid plexus carcinomas. […] The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells.

• #37 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #38 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children. […] CPC is an exceptionally rare intracranial neoplasm characterized histologically by friable papillary or cauliflower-like appearance, increased mitotic figures, pleomorphic nuclei, and necrosis. […] CPC was found to be more common among males and significantly associated with younger age (median age 1 year) at diagnosis in comparison with CPP. […] The extremely low incidence of CPC in children has been a major obstacle in the development of standardized clinical trials with the therapeutic options being based upon expert opinion and case studies. […] Various management strategies include surgery, chemotherapy, radiotherapy, and autologous hematopoietic cell rescue.

• #39 Choroid plexus carcinoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/choroid-plexus-carcinoma/symptoms-causes/syc-20578760

  Choroid plexus carcinoma is a rare type of brain cancer that happens mainly in children. […] It’s not clear what causes most choroid plexus carcinomas. This cancer starts as a growth of cells in the brain. […] Choroid plexus carcinoma happens when cells in the brain develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of choroid plexus carcinoma include: Young age. Choroid plexus carcinoma can happen at any age. This brain cancer happens most often in children under 2 years old. […] Some choroid plexus carcinomas are linked to certain genetic changes that can run in families, such as with Li-Fraumeni syndrome.

• #40 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children. […] CPC is an exceptionally rare intracranial neoplasm characterized histologically by friable papillary or cauliflower-like appearance, increased mitotic figures, pleomorphic nuclei, and necrosis. […] CPC was found to be more common among males and significantly associated with younger age (median age 1 year) at diagnosis in comparison with CPP. […] The extremely low incidence of CPC in children has been a major obstacle in the development of standardized clinical trials with the therapeutic options being based upon expert opinion and case studies. […] Various management strategies include surgery, chemotherapy, radiotherapy, and autologous hematopoietic cell rescue.

• #41 Choroid Plexus Carcinoma: Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/choroid-plexus-carcinoma

  Choroid plexus carcinoma is a rare, aggressive brain cancer that most often affects infants and children. […] Medical experts arent sure why some people develop choroid plexus carcinoma. Cancers, in general, occur when a gene changes or mutates. This change causes diseased cells to rapidly grow and spread. […] Anyone can develop choroid plexus carcinoma. But these factors may increase your risk: Aicardi syndrome: Children born with Aicardi syndrome have unusual brain changes that may increase their risk of choroid plexus tumors. An unknown gene change (mutation) causes this condition. It isnt a condition passed down through families (inherited). […] Li-Fraumeni syndrome: People who have a rare genetic condition called Li-Fraumeni syndrome are more prone to developing cancers. Most people inherit a gene change from a biological parent that causes this condition. […] Biological sex: For unknown reasons, women are slightly more at risk.

• #42 Tumors of the Choroid Plexus in New Jersey | Centers for Neurosurgery, Spine & Orthopedics

  https://www.cnsomd.com/surgery-conditions/brain-tumors/choroid-pluxus-tumor/

  Choroid plexus tumors are formed in the central nervous system, which includes the brain, cerebellum, and spinal cord. […] There is no definitive cause known for choroid plexus tumors. Possibilities include infections and factors related to the immune system or environment. Mutated genes have been linked with some of these tumors, in rare conditions such as Down syndrome, Li-Fraumeni syndrome, Aicardi syndrome, von Hippel-Lindau syndrome, and neurofibromatosis 2. […] Females are affected by choroid plexus tumors slightly more often than males.

• #43 Choroid Plexus Papilloma: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/250795-overview

  Choroid plexus papillomas arise from the single layer of cuboidal epithelial cells lining the papillae of the choroid plexus. The choroid plexus is associated with the ventricular lining of the body, trigone, and inferior horn of the lateral ventricles; the foramen of Monro; the roof of the third ventricle; and the posterior portion of the roof of the fourth ventricle. Typical locations of the normal choroid plexus correspond to the most common sites for occurrence of CPP. […] One study points to the role of a transmembrane receptor protein (Notch3) in the pathogenesis of human choroid plexus tumors. The Notch pathway helps regulate development of the mammalian nervous system, and activation of the Notch pathway has been increasingly recognized in human cancers. Notch3 is expressed in ventricular zone progenitor cells in the fetal brain and, when activated, can function as an oncogene.

• #44 Choroid plexus tumours | British Journal of Cancer

  https://www.nature.com/articles/6600609

  Choroid plexus tumours are rare epithelial brain tumours and limited information is available regarding their biology and the best treatment. […] The etiology of some choroid plexus tumours has been linked to SV40 infections, but it might also be influenced by other factors such as X-chromosome linked syndromes. […] Cerebello-pontine angle tumours were associated with older age, benign histology, and female gender. […] Interestingly, the report about SV40 in choroid plexus tumours described children only. Based on this analysis we hypothesised that SV40 is more frequently found in infant tumours and that there is a distinctly different aetiology in adult choroid plexus tumours.

• #45 Choroid plexus tumours

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2376189/

  Choroid plexus tumours are rare epithelial brain tumours and limited information is available regarding their biology and the best treatment. […] The etiology of some choroid plexus tumours has been linked to SV40 infections, but it might also be influenced by other factors such as X-chromosome linked syndromes. […] We found significant differences when relating gender to age at diagnosis, tumour location or pathology. […] This could suggest a tumour entity linked to a tumour-suppressor gene located on the X-chromosome. […] Interestingly, the syndromes with defects on the X-chromosome were reported with choroid plexus papilloma. […] Based on this analysis we hypothesised that SV40 is more frequently found in infant tumours and that there is a distinctly different aetiology in adult choroid plexus tumours.

• #46 Choroid Plexus Papilloma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539749/

  The etiology of choroid plexus papillomas is undetermined. Neonatal choroid plexus papillomas are thought to be congenital. Some studies have demonstrated an association between simian virus 40 (SV40) and the occurrence of choroid plexus tumors. BK virus and John Cunningham (JC) viruses have also been implicated. Complexes of SV40 large T antigen and TP53 and Rb proteins have been identified in humans with choroid plexus tumors. The R248W mutation of TP53 is one of the most common mutations in choroid plexus tumors, but current data do not support a causative role. […] In contrast, the rarely encountered choroid plexus carcinoma is classified as World Health Organization grade III. The presence of 4 or more of the following malignant histopathological characteristics is indicative of choroid plexus carcinoma: brisk mitotic activity (5 mitoses per 10 high-power fields), nuclear pleomorphism, high cellularity, blurring of the papillary growth pattern, and necrosis.

• #47 Choroid Plexus Papilloma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539749/

  The etiology of choroid plexus papillomas is undetermined. Neonatal choroid plexus papillomas are thought to be congenital. Some studies have demonstrated an association between simian virus 40 (SV40) and the occurrence of choroid plexus tumors. BK virus and John Cunningham (JC) viruses have also been implicated. Complexes of SV40 large T antigen and TP53 and Rb proteins have been identified in humans with choroid plexus tumors. The R248W mutation of TP53 is one of the most common mutations in choroid plexus tumors, but current data do not support a causative role. […] In contrast, the rarely encountered choroid plexus carcinoma is classified as World Health Organization grade III. The presence of 4 or more of the following malignant histopathological characteristics is indicative of choroid plexus carcinoma: brisk mitotic activity (5 mitoses per 10 high-power fields), nuclear pleomorphism, high cellularity, blurring of the papillary growth pattern, and necrosis.

• #48 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children. […] CPC is an exceptionally rare intracranial neoplasm characterized histologically by friable papillary or cauliflower-like appearance, increased mitotic figures, pleomorphic nuclei, and necrosis. […] CPC was found to be more common among males and significantly associated with younger age (median age 1 year) at diagnosis in comparison with CPP. […] The extremely low incidence of CPC in children has been a major obstacle in the development of standardized clinical trials with the therapeutic options being based upon expert opinion and case studies. […] Various management strategies include surgery, chemotherapy, radiotherapy, and autologous hematopoietic cell rescue.

• #49

  https://link.springer.com/article/10.1007/s42399-025-01831-5

  Currently, there is no standardized treatment, although achieving macroscopic gross total resection (GTR) is considered good practice whenever possible. […] However, this is not always feasible due to the lesions characteristics, particularly its high vascularization and location. […] Adjuvant therapy with radiotherapy (RT) and/or chemotherapy (CTx) appears to offer benefits, but its impact on long-term survival remains a subject of debate. […] The initial diagnosis is based on computed tomography (CT), which reveals hypodense, heterogeneous lesions, and, in some cases, calcifications. […] Immunohistochemically, CPC is typically positive for broad-spectrum cytokeratins and variably for vimentin, S100, transthyretin, and glial fibrillary acid protein (GFAP), while it is usually negative for epithelial membrane antigen (EMA).

• #50 Choroid plexus tumor: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/choroid-plexus-tumor

  Choroid plexus tumors are rare. […] The exact cause of choroid plexus tumors is unknown, but research has identified several factors that may increase the risk of developing them, including: […] There is an association between certain genetic conditions and a higher risk of developing choroid plexus tumors. […] While the primary causes are mainly genetic, researchers are investigating whether environmental exposures, such as radiation exposure, might contribute to the development of these tumors.

• #51 Treating Brain Cancer in NJ, CT, & MD – Regional Cancer Care Associates

  https://www.regionalcancercare.org/cancer-types/brain-cancer/

  Brain tumors can develop due to several causes, including hereditary syndromes and radiation exposure that damages cells and causes them to mutate and become cancerous. […] In many cases, the cause of a persons brain tumor is unknown. […] Choroid plexus tumors: The choroid plexus is a structure that lines the fluid-filled cavities, or ventricles, of the brain. Its main purpose is to produce cerebrospinal fluid (CSF) that flows through the brain and spinal cord. Cancers that develop in this lining are called choroid plexus tumors. The CSF can carry these cancerous cells elsewhere in the central nervous system. […] Hereditary syndromes are responsible for some brain tumors, placing the children of parents with a history of brain cancer at elevated risk. However, most cases of the disease are not hereditary. A history of radiation exposure also is a risk factor for brain cancer because radiation can cause changes to a persons DNA that cause cells to mutate and become cancerous.

• #52 Tumors of the Choroid Plexus in New Jersey | Centers for Neurosurgery, Spine & Orthopedics

  https://www.cnsomd.com/surgery-conditions/brain-tumors/choroid-pluxus-tumor/

  Choroid plexus tumors are formed in the central nervous system, which includes the brain, cerebellum, and spinal cord. […] There is no definitive cause known for choroid plexus tumors. Possibilities include infections and factors related to the immune system or environment. Mutated genes have been linked with some of these tumors, in rare conditions such as Down syndrome, Li-Fraumeni syndrome, Aicardi syndrome, von Hippel-Lindau syndrome, and neurofibromatosis 2. […] Females are affected by choroid plexus tumors slightly more often than males.

• #53 Choroid Plexus Tumors Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/choroid-plexus-tumors

  Choroid plexus carcinomas are associated with the genetic conditions Li-Fraumeni syndrome and rhabdoid predisposition syndrome. […] What causes choroid plexus tumors is currently unknown. […] Most of these tumors are sporadic, but some may be associated with rare genetic syndromes.

• #54 Choroid Plexus Brain Tumor | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/choroid-plexus-brain-tumor

  Choroid plexus carcinoma (CPCs) grow more aggressively and are more likely to spread than either APPs or CPPs. CPCs are less common, accounting for 25-35 percent of all choroid plexus tumors. […] As a parent, you undoubtedly want to know what may have caused your child’s tumor. It’s important to understand that these and other brain tumors most often occur with no known cause. There’s nothing that you could have done or avoided doing that would have prevented the tumor from developing. […] One rare genetic disease called Li-Fraumeni syndrome can be associated with choroid plexus tumors. If your child has a choroid plexus tumor their doctors will talk to you about genetic testing for Li-Fraumeni syndrome.

• #55 :: BTRT :: Brain Tumor Research and Treatment

  https://btrt.org/DOIx.php?id=10.14791/btrt.2019.7.e23

  Choroid plexus tumors are rare, accounting for only 0.30.6% of all brain tumors and 1020% of those in infants. Choroid plexus tumors include choroid plexus papilloma (CPP), atypical CPP, and choroid plexus carcinoma (CPC). Of these subtypes, CPCs are the most aggressive and malignant at a World Health Organization grade III. CPC primarily occurs in children, and the median age of patients with CPC is 3 years, highlighting the rarity of adult-onset CPC. As CPC is derived from choroid plexus epithelium, it usually presents with cerebrospinal fluid (CSF) obstruction and progresses through CSF metastasis. Mechanical obstruction of the CSF is a common cause of symptoms, including headache, diplopia, and ataxia, and is followed by hydrocephalus. […] The extent of tumor removal is associated with significantly superior overall survival (OS); whereas, the effect of adjuvant chemotherapy or radiotherapy on OS remains controversial.

• #56 Choroid plexus carcinoma – Wikipedia

  https://en.wikipedia.org/wiki/Choroid_plexus_carcinoma

  The cause of choroid plexus carcinomas are relatively unknown, although hereditary factors are suspected. They sometimes occur in conjunction with other hereditary cancers, including LiFraumeni syndrome and malignant rhabdoid tumors. A mutation in the tumor suppressor gene TP53 is usually characterized in this disease. […] Choroid plexus carcinomas can induce hydrocephalus through a variety of mechanisms, including blockage of normal cerebrospinal fluid (CSF) flow, the tumor overproducing CSF, spontaneous hemorrhage, and expansion of the ventricles.

• #57 A Case of Choroid Plexus Papilloma with Rare Location Presenting with Impaired Consciousness – Istanbul Medical Journal

  https://www.istanbulmedicaljournal.org/articles/a-case-of-choroid-plexus-papilloma-with-rare-location-presenting-with-impaired-consciousness/doi/imj.galenos.2018.44711

  Intraventricular papillary neoplasms originating from the choroid plexus epithelium are called choroid plexus tumors (CPT). […] The most common symptoms of CPT in pediatric patients are hydrocephalus, signs of increased intracranial pressure (IICP), seizures, subarachnoid hemorrhage or focal neurological deficits. […] Choroidal plexus tumor was classified as grade 1, 2 and 3 by World Health Organization, and they were named as CPP, atypical CPP, and choroid plexus carcinoma, respectively. […] Due to mechanical obstruction, hydrocephalus in CPTs is frequently caused by the spread of the mass and excessive secretion of CSF. […] The factors associated with prognosis in CPP are symptoms, the size and the location of the tumor.

• #58 Choroid Plexus Tumors in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/choroid-plexus-tumor.html

  Choroid plexus carcinoma (CPC) is a cancerous form of choroid plexus tumor. It grows faster. It is more likely to spread through the cerebrospinal fluid to other tissues. About 10-20% of choroid plexus tumors are CPC. […] Increased risk for choroid plexus carcinoma is associated with Li-Fraumeni syndrome, an inherited syndrome. […] Choroid plexus carcinoma is a more aggressive cancer. Most of these patients will receive many types of treatments. […] Choroid plexus carcinoma generally is cancerous, typically Grade III, more aggressive, and can grow rapidly.

• #59

  https://link.springer.com/article/10.1007/s42399-025-01831-5

  According to the latest WHO classification (5th edition), choroid plexus carcinoma (CPC) is a rare, grade 3 malignancy originating from the choroid plexus, predominantly affecting pediatric patients. […] In adults, CPC is uncommon, and the limited data available have hindered the development of standardized treatment protocols. […] Given that CPC originates from the choroid epithelium within the ventricles, up to 20% of cases present with tumor dissemination at diagnosis, often leading to mechanical obstruction of cerebrospinal fluid (CSF) flow and causing symptoms such as headaches, visual disturbances, gait instability, and hydrocephalus. […] Despite advances in the classification of central nervous system tumors introduced by WHO in 2021, which emphasize a molecular biomarker-based approach combined with traditional histopathology, CPC remains a challenging tumor to manage.

• #60 :: BTRT :: Brain Tumor Research and Treatment

  https://btrt.org/DOIx.php?id=10.14791/btrt.2019.7.e23

  Choroid plexus tumors are rare, accounting for only 0.30.6% of all brain tumors and 1020% of those in infants. Choroid plexus tumors include choroid plexus papilloma (CPP), atypical CPP, and choroid plexus carcinoma (CPC). Of these subtypes, CPCs are the most aggressive and malignant at a World Health Organization grade III. CPC primarily occurs in children, and the median age of patients with CPC is 3 years, highlighting the rarity of adult-onset CPC. As CPC is derived from choroid plexus epithelium, it usually presents with cerebrospinal fluid (CSF) obstruction and progresses through CSF metastasis. Mechanical obstruction of the CSF is a common cause of symptoms, including headache, diplopia, and ataxia, and is followed by hydrocephalus. […] The extent of tumor removal is associated with significantly superior overall survival (OS); whereas, the effect of adjuvant chemotherapy or radiotherapy on OS remains controversial.

• #61 Choroid Plexus – American Brain Tumor Association | Learn More

  https://www.abta.org/tumor_types/choroid-plexus/

  Patients with Li Fraumeni syndrome (a germline or constitutional mutation in the TP53 gene) are at much higher risk of developing choroid plexus carcinoma than the average population. […] TP53 mutations are common in choroid plexus carcinoma and are associated with a worse prognosis.

• #62 Choroid plexus carcinoma | Eurorad

  https://www.eurorad.org/case/16772

  Choroid plexus neoplasms represent 0.4%0.6% of all intracranial tumours, but 10%20% in children less than 1 year of age. […] Choroid plexus carcinoma (CPC) is a WHO grade III tumour, with a worse prognosis than choroid plexus papilloma (WHO grade I) and atypical choroid plexus papilloma (WHO grade II). […] It is associated with Aicardi (X-linked dominant disorder) and Li-Fraumeni (mutation of P53 tumour suppressor gene, TP53) syndromes. […] Factors such as brain invasion, CSF seeding or TP53 mutation are associated with a worse prognosis.

• #63 Choroid plexus tumors of childhood | MedLink Neurology

  https://www.medlink.com/articles/choroid-plexus-tumors-of-childhood

  Notch 3 signaling, the transcription factor TWIST1, platelet-derived growth factor receptor, and the tumor necrosis factor-related apoptosis-inducing ligand pathway have also been implicated in papilloma tumorigenesis. […] Methylation profiling has demonstrated three distinct subgroups: cluster 1 consisting of low risk tumors that contained primarily choroid plexus papillomas and atypical papillomas occurring in young children, primarily in the supratentorial space and having an excellent prognosis; cluster 2 arising in adulthood with predominant infratentorial origin and intermediate to excellent prognosis; and cluster 3, also found most commonly in the supratentorial space of young children, consisting of choroid plexus carcinomas, papillomas, and atypical papillomas. […] Furthermore, choroid plexus carcinomas clustered on DNA methylation profiles with homozygous TP53 mutations separately from those with heterozygous TP53 mutation or wild type TP53 and had the worst prognosis.

• #64 LFS Childhood Cancer Awareness: Choroid Plexus Carcinoma | Living LFS: Li-Fraumeni Syndrome

  https://livinglfs.org/lfs-childhood-cancer-awareness-choroid-plexus-carcinoma/

  Choroid Plexus Brain Tumors are highly associated with Li-Fraumeni Syndrome. […] In the early 1990’s, clinicians were beginning to see a link between kids with Choroid Plexus Carcinoma and LFS. Yet, it wasn’t until the 2000s that there was enough data to tell. […] Choroid Plexus Carcinoma generally occurs in children under the age of 2 and the survival prognosis is poor, especially in tumors that have acquired many mutations. If the child is diagnosed with a TP53 mutation, yet their parents do not have the mutation, they are considered „de novo”- a new mutation. These mutations can happen in the parent’s germ cells or at some point during pregnancy. […] Kids and people with LFS are very sensitive to ionizing radiation, especially to the brain. Risks and benefits should be discussed with a professional team knowledgeable in Li-Fraumeni Syndrome. Recent studies show that radiation therapy for Choroid Plexus Tumors in LFS could negatively affect survival. Treatment options for Choroid Plexus Tumors include surgery and chemotherapy.

• #65 Choroid plexus carcinoma | Eurorad

  https://www.eurorad.org/case/16772

  Choroid plexus neoplasms represent 0.4%0.6% of all intracranial tumours, but 10%20% in children less than 1 year of age. […] Choroid plexus carcinoma (CPC) is a WHO grade III tumour, with a worse prognosis than choroid plexus papilloma (WHO grade I) and atypical choroid plexus papilloma (WHO grade II). […] It is associated with Aicardi (X-linked dominant disorder) and Li-Fraumeni (mutation of P53 tumour suppressor gene, TP53) syndromes. […] Factors such as brain invasion, CSF seeding or TP53 mutation are associated with a worse prognosis.

• #66 Choroid plexus carcinoma with leptomeningeal spread in an adult: a case report and  review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02887-2

  A few studies have reported that radiation therapy leads to better clinical outcome in patients with CPC. […] However, the radiation field of CPC is a topic of debate. […] Furthermore, Fabi et al. concluded that CSI could be more effective than chemotherapy when leptomeningeal seeding is present. […] Although the best chemotherapy regimen for CPC is still unknown, a report revealed long-term outcomes while applying temozolomide (TMZ) in CPC patient with MGMT methylation, while another report showed no effect of TMZ in the absence of MGMT methylation. […] As it is difficult to perform randomized controlled trials on rare carcinomas such as CPC, diverse experiences of CPC in different institutions should be reported and shared.

• #67

  https://med.uth.edu/blog/2023/08/23/research-published-on-novel-therapy-for-choroid-plexus-carcinoma/

  Choroid plexus carcinoma (CPC) is a malignant brain tumor that primarily occurs in children but is rare in adult patients. […] Patients diagnosed with CPC have a survival rate of just 2.7 years, with limited regimens for chemotherapy due to limited knowledge of the gene mutation profile of the tumor. […] The testing identifies mutations among 315 genes, and in this case, the patient showed a mutation in the PTEN gene, which develops an enzyme that suppresses tumors in human tissue. […] Since there are no established guidelines for treatment against adult CPC after surgery and radiation, we believe that our regimen is a potentially viable therapy for those with the PTEN mutation, Zhu said.

• #68 Choroid plexus carcinoma with leptomeningeal spread in an adult: a case report and  review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02887-2

  A few studies have reported that radiation therapy leads to better clinical outcome in patients with CPC. […] However, the radiation field of CPC is a topic of debate. […] Furthermore, Fabi et al. concluded that CSI could be more effective than chemotherapy when leptomeningeal seeding is present. […] Although the best chemotherapy regimen for CPC is still unknown, a report revealed long-term outcomes while applying temozolomide (TMZ) in CPC patient with MGMT methylation, while another report showed no effect of TMZ in the absence of MGMT methylation. […] As it is difficult to perform randomized controlled trials on rare carcinomas such as CPC, diverse experiences of CPC in different institutions should be reported and shared.

• #69 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Achieving gross total resection (GTR) is the most decisive factor for a patients long-term survival and prognosis. […] Despite the merits of GTR, it is often difficult to achieve complete resection and it has increased morbidity. […] A global consensus on neoadjuvant chemotherapy and regimens is lacking and is yet to be standardized. […] Radiation therapy (RT) is an important aspect of management, but its implementation is limited in young children (2 years). […] Despite CPC carrying a poor prognosis, our patient underwent a successful gross total resection (GTR) and received postoperative radiotherapy. […] We conclude that, when possible, GTR should be a priority in the management of patients with CPC.

• #70

  https://link.springer.com/article/10.1007/s42399-025-01831-5

  Currently, there is no standardized treatment, although achieving macroscopic gross total resection (GTR) is considered good practice whenever possible. […] However, this is not always feasible due to the lesions characteristics, particularly its high vascularization and location. […] Adjuvant therapy with radiotherapy (RT) and/or chemotherapy (CTx) appears to offer benefits, but its impact on long-term survival remains a subject of debate. […] The initial diagnosis is based on computed tomography (CT), which reveals hypodense, heterogeneous lesions, and, in some cases, calcifications. […] Immunohistochemically, CPC is typically positive for broad-spectrum cytokeratins and variably for vimentin, S100, transthyretin, and glial fibrillary acid protein (GFAP), while it is usually negative for epithelial membrane antigen (EMA).

• #71 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Achieving gross total resection (GTR) is the most decisive factor for a patients long-term survival and prognosis. […] Despite the merits of GTR, it is often difficult to achieve complete resection and it has increased morbidity. […] A global consensus on neoadjuvant chemotherapy and regimens is lacking and is yet to be standardized. […] Radiation therapy (RT) is an important aspect of management, but its implementation is limited in young children (2 years). […] Despite CPC carrying a poor prognosis, our patient underwent a successful gross total resection (GTR) and received postoperative radiotherapy. […] We conclude that, when possible, GTR should be a priority in the management of patients with CPC.

• #72 Choroid plexus carcinoma with leptomeningeal spread in an adult: a case report and  review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02887-2

  A few studies have reported that radiation therapy leads to better clinical outcome in patients with CPC. […] However, the radiation field of CPC is a topic of debate. […] Furthermore, Fabi et al. concluded that CSI could be more effective than chemotherapy when leptomeningeal seeding is present. […] Although the best chemotherapy regimen for CPC is still unknown, a report revealed long-term outcomes while applying temozolomide (TMZ) in CPC patient with MGMT methylation, while another report showed no effect of TMZ in the absence of MGMT methylation. […] As it is difficult to perform randomized controlled trials on rare carcinomas such as CPC, diverse experiences of CPC in different institutions should be reported and shared.

• #73 LFS Childhood Cancer Awareness: Choroid Plexus Carcinoma | Living LFS: Li-Fraumeni Syndrome

  https://livinglfs.org/lfs-childhood-cancer-awareness-choroid-plexus-carcinoma/

  Choroid Plexus Brain Tumors are highly associated with Li-Fraumeni Syndrome. […] In the early 1990’s, clinicians were beginning to see a link between kids with Choroid Plexus Carcinoma and LFS. Yet, it wasn’t until the 2000s that there was enough data to tell. […] Choroid Plexus Carcinoma generally occurs in children under the age of 2 and the survival prognosis is poor, especially in tumors that have acquired many mutations. If the child is diagnosed with a TP53 mutation, yet their parents do not have the mutation, they are considered „de novo”- a new mutation. These mutations can happen in the parent’s germ cells or at some point during pregnancy. […] Kids and people with LFS are very sensitive to ionizing radiation, especially to the brain. Risks and benefits should be discussed with a professional team knowledgeable in Li-Fraumeni Syndrome. Recent studies show that radiation therapy for Choroid Plexus Tumors in LFS could negatively affect survival. Treatment options for Choroid Plexus Tumors include surgery and chemotherapy.

• #74 Choroid plexus carcinoma in an adolescent male: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02801-w

  Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children. […] CPC is an exceptionally rare intracranial neoplasm characterized histologically by friable papillary or cauliflower-like appearance, increased mitotic figures, pleomorphic nuclei, and necrosis. […] CPC was found to be more common among males and significantly associated with younger age (median age 1 year) at diagnosis in comparison with CPP. […] The extremely low incidence of CPC in children has been a major obstacle in the development of standardized clinical trials with the therapeutic options being based upon expert opinion and case studies. […] Various management strategies include surgery, chemotherapy, radiotherapy, and autologous hematopoietic cell rescue.

• #75 What Is Choroid Plexus Carcinoma? – Klarity Health Library

  https://my.klarity.health/what-is-choroid-plexus-carcinoma/

  Ongoing research is exploring the exact cause of choroid plexus carcinoma. While the precise origins remain unclear, investigations suggest a connection between genetic mutations and the development of this rare brain tumour. […] Genetic mutations are believed to play a significant role in the formation of choroid plexus carcinoma. These mutations can trigger uncontrolled cell proliferation within the choroid plexus, leading to tumour development. […] Researchers are diligently examining the interplay between genetic and environmental factors that may contribute to the occurrence of choroid plexus carcinoma. Identifying these factors is essential for advancing our understanding and developing targeted therapies.

• #76 Plexus tumor | Neurosurgery Inselspital Bern

  https://neurochirurgie.insel.ch/en/what-we-treat/brain-tumor/plexus-tumor

  Plexus tumor usually develops sporadically. However, patients with Li-Fraumeni syndrome are known to develop choroid plexus carcinoma more frequently. The cause is thought to be a TP53 mutation. This mutation of the tumor suppressor protein TP53 can also occur in other genetic diseases or sporadically. […] Apart from hereditary factors, alterations of certain genes or chromosomes seem to play an important role in the development of plexus tumors. Modern genetic analyses have identified 6 corresponding genes (TWIST1, WIF1, AJAP1, BCLAF1, TRPM3, IL6ST). […] Also, a connection with a specific signal transduction pathway is discussed, which is involved in the development of gliomas and embryonic tumors. This is known as the Notch pathway. […] Furthermore, the methylation of certain gene segments is being investigated, which is associated with the loss of a tumor suppression function.

• #77 What Is Choroid Plexus Carcinoma? – Klarity Health Library

  https://my.klarity.health/what-is-choroid-plexus-carcinoma/

  Ongoing research is exploring the exact cause of choroid plexus carcinoma. While the precise origins remain unclear, investigations suggest a connection between genetic mutations and the development of this rare brain tumour. […] Genetic mutations are believed to play a significant role in the formation of choroid plexus carcinoma. These mutations can trigger uncontrolled cell proliferation within the choroid plexus, leading to tumour development. […] Researchers are diligently examining the interplay between genetic and environmental factors that may contribute to the occurrence of choroid plexus carcinoma. Identifying these factors is essential for advancing our understanding and developing targeted therapies.

• #78

  https://med.uth.edu/blog/2023/08/23/research-published-on-novel-therapy-for-choroid-plexus-carcinoma/

  Choroid plexus carcinoma (CPC) is a malignant brain tumor that primarily occurs in children but is rare in adult patients. […] Patients diagnosed with CPC have a survival rate of just 2.7 years, with limited regimens for chemotherapy due to limited knowledge of the gene mutation profile of the tumor. […] The testing identifies mutations among 315 genes, and in this case, the patient showed a mutation in the PTEN gene, which develops an enzyme that suppresses tumors in human tissue. […] Since there are no established guidelines for treatment against adult CPC after surgery and radiation, we believe that our regimen is a potentially viable therapy for those with the PTEN mutation, Zhu said.

• #79 Choroid plexus tumours – Brief information

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/brain_tumours/choroid_plexus_tumours/brief_information/index_eng.html

  Choroid plexus tumours arise from altered cells of the brain tissue that coats the inner walls of the brains fluid-filled cavities (plexus choroideus). What causes the (malignant) transformation of these cells still needs to be elucidated. […] It is known so far, however, that children and adolescents with certain hereditary diseases, such as Li-Fraumeni syndrome, have an elevated risk to develop a choroid plexus tumour, in most cases a choroid plexus carcinoma. […] Aside from hereditary factors, choroid plexus tumour cells (especially plexus carcinoma cells) often show modifications on certain genes or chromosomes. These modifications may lead to impaired cell development and dysfunctional communication between cells, thereby possibly contributing to the transformation of a healthy into a malignant cell. Such genetic alterations are usually not hereditary, they mostly happen early in development.

• #80 Choroid plexus carcinoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/choroid-plexus-carcinoma/symptoms-causes/syc-20578760

  Choroid plexus carcinoma is a rare type of brain cancer that happens mainly in children. […] It’s not clear what causes most choroid plexus carcinomas. This cancer starts as a growth of cells in the brain. […] Choroid plexus carcinoma happens when cells in the brain develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of choroid plexus carcinoma include: Young age. Choroid plexus carcinoma can happen at any age. This brain cancer happens most often in children under 2 years old. […] Some choroid plexus carcinomas are linked to certain genetic changes that can run in families, such as with Li-Fraumeni syndrome.

• #81 Choroid Plexus Tumor: Diagnosis and Treatment – NCI

  https://www.cancer.gov/rare-brain-spine-tumor/tumors/choroid-plexus-tumors

  Choroid plexus tumors are primary central nervous system (CNS) tumors. This means they begin in the brain or spinal cord. […] The cause of most choroid plexus tumors is not known. Genetic changes, notably mutation of the TP53 gene, have been linked to the formation of grade 3 choroid plexus carcinomas in about 50 percent of cases. Rarely, certain genetic changes that can be passed down through families have been linked to a higher chance of developing choroid plexus carcinomas.

• #82 Choroid plexus carcinoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/choroid-plexus-carcinoma?lang=us

  Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. […] The most common underlying genetic mechanism identified in their formation is dysfunction of the p53 tumor suppressor gene (TP53). […] Choroid plexus carcinomas occur predominantly in children, typically in the first 5 years of life. […] They are rare, far less common than choroid plexus papillomas (which account for 80% of primary choroid plexus tumors), representing only 1-4% of pediatric brain tumors. […] Associations include Li-Fraumeni syndrome, Aicardi syndrome, and simian virus 40 (SV40), on the basis of this virus’ DNA having been identified in up to 50% of cases.

• #83 Choroid Plexus Carcinoma – DoveMed

  https://www.dovemed.com/diseases-conditions/choroid-plexus-carcinoma

  About 50% of CPCs have mutations in the TP53 gene. Abnormal PDGFR and NOTCH3 gene activation has been noted. Mutations correlating with the associated genetic disorders, if any, may be identified. […] Simian virus 40 DNA has been detected in nearly 50% of the tumors. However, the significance of the presence of this viral DNA in the tumor is currently unknown.

• #84 What Is Choroid Plexus Carcinoma? – Klarity Health Library

  https://my.klarity.health/what-is-choroid-plexus-carcinoma/

  Ongoing research is exploring the exact cause of choroid plexus carcinoma. While the precise origins remain unclear, investigations suggest a connection between genetic mutations and the development of this rare brain tumour. […] Genetic mutations are believed to play a significant role in the formation of choroid plexus carcinoma. These mutations can trigger uncontrolled cell proliferation within the choroid plexus, leading to tumour development. […] Researchers are diligently examining the interplay between genetic and environmental factors that may contribute to the occurrence of choroid plexus carcinoma. Identifying these factors is essential for advancing our understanding and developing targeted therapies.

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