MCID: CHR573
MIFTS: 46

Choroid Plexus Cancer

Categories: Rare diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Choroid Plexus Cancer

MalaCards integrated aliases for Choroid Plexus Cancer:

Name: Choroid Plexus Cancer 12 14
Choroid Plexus Carcinoma 12 49 28 41 14 69
Choroid Plexus Neoplasms 41 69
Malignant Neoplasm of the Choroid Plexus 12
Malignant Neoplasm of Choroid Plexus 12
Malignant Tumor of Choroid Plexus 12
Tumor of the Choroid Plexus 12
Cancer of Choroid Plexus 12
Choroid Plexus Neoplasm 12
Tumor of Choroid Plexus 12
Choroid Plexus Tumors 51

Classifications:



External Ids:

Disease Ontology 12 DOID:3540 DOID:5648

Summaries for Choroid Plexus Cancer

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251899Disease definitionChoroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.Visit the Orphanet disease page for more resources. Last updated: 3/20/2014

MalaCards based summary : Choroid Plexus Cancer, also known as choroid plexus carcinoma, is related to papilloma of choroid plexus and adult choroid plexus cancer, and has symptoms including vomiting and headache. An important gene associated with Choroid Plexus Cancer is TP53 (Tumor Protein P53), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are Increased proliferation and vision/eye

Disease Ontology : 12 A choroid plexus cancer that has material basis in epithelial cells of the choroid plexus.

Wikipedia : 72 Choroid plexus tumors are a rare type of cancer that occur from the brain tissue called choroid plexus... more...

Related Diseases for Choroid Plexus Cancer

Diseases in the Choroid Plexus Cancer family:

Adult Choroid Plexus Cancer

Diseases related to Choroid Plexus Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 papilloma of choroid plexus 30.9 GFAP KCNJ13 TP53 TTR
2 adult choroid plexus cancer 12.2
3 childhood choroid plexus cancer 12.2
4 rhabdoid tumor predisposition syndrome 1 11.6
5 li-fraumeni syndrome 11.5
6 li-fraumeni syndrome 2 11.5
7 frontal convexity meningioma 10.4 GFAP TP53
8 gliofibroma 10.4 GFAP TP53
9 cerebral convexity meningioma 10.4 GFAP TP53
10 protoplasmic astrocytoma 10.4 GFAP TP53
11 cellular ependymoma 10.4 GFAP TP53
12 central nervous system primitive neuroectodermal neoplasm 10.4 GFAP TP53
13 cerebral neuroblastoma 10.4 GFAP TP53
14 mixed glioma 10.3 GFAP TP53
15 spinal cancer 10.3 GFAP TP53
16 chordoid glioma 10.3 GFAP TP53
17 ependymoblastoma 10.3 GFAP TP53
18 malignant ependymoma 10.3 GFAP TP53
19 gliomatosis cerebri 10.3 GFAP TP53
20 spinal cord astrocytoma 10.3 GFAP TP53
21 necrotizing sialometaplasia 10.3 GFAP TP53
22 papillary ependymoma 10.3 GFAP TTR
23 brown-sequard syndrome 10.3 GFAP TTR
24 cystic teratoma 10.3 GFAP TP53
25 adult medulloblastoma 10.3 GFAP TP53
26 juvenile pilocytic astrocytoma 10.3 GFAP TP53
27 brain glioma 10.3 GFAP TP53
28 clear cell ependymoma 10.3 GFAP TP53
29 optic nerve glioma 10.3 GFAP TP53
30 epidural neoplasm 10.2 SMARCB1 TP53
31 giant cell glioblastoma 10.2 GFAP TP53
32 dysentery 10.2 IER3IP1 TTR
33 small cell sarcoma 10.2 SMARCB1 TP53
34 epithelial-myoepithelial carcinoma 10.2 SMARCB1 TP53
35 grade iii astrocytoma 10.2 GFAP TP53
36 melanotic medulloblastoma 10.2 GFAP SMARCB1
37 rhabdoid meningioma 10.2 GFAP SMARCB1
38 nodular medulloblastoma 10.2 GFAP SMARCB1
39 tanycytic ependymoma 10.2 GFAP SMARCB1
40 atypical teratoid rhabdoid tumor 10.2 GFAP SMARCB1
41 alpha-thalassemia/mental retardation syndrome, x-linked 10.2 ATRX TP53
42 cerebellopontine angle tumor 10.2 GFAP SMARCB1
43 pleomorphic adenoma 10.2 GFAP TP53
44 integumentary system cancer 10.2 IER3IP1 TP53
45 brain germinoma 10.1 GFAP SMARCB1
46 connective tissue cancer 10.1 SMARCB1 TP53
47 teratoma 10.1 GFAP TP53
48 organ system benign neoplasm 10.1 SMARCB1 TP53
49 myoepithelioma 10.1 GFAP SMARCB1
50 choroiditis 10.1

Graphical network of the top 20 diseases related to Choroid Plexus Cancer:



Diseases related to Choroid Plexus Cancer

Symptoms & Phenotypes for Choroid Plexus Cancer

UMLS symptoms related to Choroid Plexus Cancer:


vomiting, headache

GenomeRNAi Phenotypes related to Choroid Plexus Cancer according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Choroid Plexus Cancer:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 ATRX GFAP SMARCB1 TP53 TTR

Drugs & Therapeutics for Choroid Plexus Cancer

Drugs for Choroid Plexus Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
nivolumab Approved Phase 2 946414-94-4
4
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
5
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Etoposide Approved Phase 2 33419-42-0 36462
8
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
9
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
10
Vinblastine Approved Phase 2 865-21-4 241903 13342
11
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
14 Protein Kinase Inhibitors Phase 2
15 Antibodies Phase 2
16 Antibodies, Monoclonal Phase 2
17 Immunoglobulins Phase 2
18 Alkylating Agents Phase 2
19 Antimetabolites Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antimitotic Agents Phase 2
22 Antineoplastic Agents, Phytogenic Phase 2
23 Antirheumatic Agents Phase 2
24 Dermatologic Agents Phase 2
25
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
26 Etoposide phosphate Phase 2
27 Folic Acid Antagonists Phase 2
28 Immunosuppressive Agents Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 topoisomerase I inhibitors Phase 2
31 Topoisomerase Inhibitors Phase 2
32 Vitamin B Complex Phase 2
33 Folate Nutraceutical Phase 2
34 Vitamin B9 Nutraceutical Phase 2
35 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib
2 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
3 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
4 Molecularly-Driven Doublet Therapy for Recurrent CNS Malignant Neoplasms Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
5 HSV G207 Alone or With a Single Radiation Dose in Children With Progressive or Recurrent Supratentorial Brain Tumors Recruiting NCT02457845 Phase 1
6 Genetic Study of Newly Diagnosed Central Nervous System Tumors in Young Children Completed NCT00010114
7 Study of Stored Tumor Samples in Young Patients With Brain Tumors Recruiting NCT00897286
8 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
9 Genetic Study of Brain Tumors in Young Children Terminated NCT00010101

Search NIH Clinical Center for Choroid Plexus Cancer

Cochrane evidence based reviews: choroid plexus neoplasms

Genetic Tests for Choroid Plexus Cancer

Genetic tests related to Choroid Plexus Cancer:

# Genetic test Affiliating Genes
1 Choroid Plexus Carcinoma 28

Anatomical Context for Choroid Plexus Cancer

MalaCards organs/tissues related to Choroid Plexus Cancer:

38
Brain, Eye

Publications for Choroid Plexus Cancer

Articles related to Choroid Plexus Cancer:

(show top 50) (show all 126)
# Title Authors Year
1
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
2
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma. ( 29025599 )
2017
3
A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). ( 28460341 )
2017
4
Concurrent Gliosarcoma and Choroid Plexus Carcinoma in a Cow. ( 27899174 )
2016
5
Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes. ( 25965574 )
2015
6
Choroid plexus carcinoma in children: The Head Start experience. ( 25662896 )
2015
7
Choroid Plexus Carcinoma in the External Ventricle of an Adult. ( 26439197 )
2015
8
Choroid plexus carcinoma in adults: an extremely rare case. ( 26161225 )
2015
9
Concurrent Gain of Oncogenes Drives Choroid Plexus Carcinoma. ( 25998405 )
2015
10
Pre-operative embolization of a choroid plexus carcinoma: review of the vascular anatomy. ( 26248671 )
2015
11
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? ( 25964589 )
2015
12
Intrauterine diagnosis and pathology of fetal choroid plexus carcinoma - A case study. ( 25034609 )
2014
13
Gross total resection improves overall survival in children with choroid plexus carcinoma. ( 24166581 )
2014
14
Effects of adjuvant chemotherapy and radiation on overall survival in children with choroid plexus carcinoma. ( 25106865 )
2014
15
Response to combined radiotherapy and chemotherapy of a leptomeningeal spread from choroid plexus carcinoma: case report. ( 25308727 )
2014
16
A typical radiological presentation in a case of choroid plexus carcinoma. ( 24991466 )
2014
17
Coincident choroid plexus carcinoma and adrenocortical tumor in an infant. ( 22752623 )
2013
18
Successful treatment of a recurrent choroid plexus carcinoma with surgery followed by high-dose chemotherapy and stem cell rescue. ( 23301664 )
2013
19
Pseudoprogression after proton beam irradiation for a choroid plexus carcinoma in pediatric patient: MRI and PET imaging patterns. ( 23151741 )
2013
20
Recurrent adult choroid plexus carcinoma treated with high-dose chemotherapy and syngeneic stem cell (bone marrow) transplant. ( 23427033 )
2013
21
Imatinib mesylate treatment for platelet-derived growth factor receptor alfa-positive choroid plexus carcinoma. ( 24765448 )
2012
22
A rare case of congenital choroid plexus carcinoma. ( 22881717 )
2012
23
A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma. ( 22534715 )
2012
24
The cytologic findings in choroid plexus carcinoma: report of a case with differential diagnosis. ( 22180231 )
2012
25
Choroid plexus carcinoma in an adult. ( 22346199 )
2012
26
Choroid plexus carcinoma: Case report and review of literature. ( 22837788 )
2012
27
Choroid plexus carcinoma: prenatal characterization by 3-dimensional sonography and magnetic resonance imaging, perinatal management, and natural history. ( 22298879 )
2012
28
Melanotic choroid plexus carcinoma of the posterior fossa. ( 21779301 )
2011
29
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. ( 21192060 )
2011
30
Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. ( 21445348 )
2011
31
MGMT promoter methylation and temozolomide response in choroid plexus carcinoma. ( 21442238 )
2011
32
Choroid plexus carcinoma cells in the cerebrospinal fluid of a Staffordshire Bull Terrier. ( 21070306 )
2010
33
Oncocytic choroid plexus carcinoma: case report. ( 20040328 )
2010
34
Invasive pneumococcal disease following treatment for choroid plexus carcinoma. ( 20076974 )
2010
35
The impact of radiotherapy fields in the treatment of patients with choroid plexus carcinoma. ( 20004534 )
2010
36
Simultaneous choroid plexus carcinoma and pilocytic astrocytoma in a pediatric patient. ( 20043745 )
2010
37
Use of ifosfamide, carboplatin, and etoposide chemotherapy in choroid plexus carcinoma. ( 20515336 )
2010
38
Hyperacute disseminated intravascular coagulation following surgery for a choroid plexus carcinoma in a child. ( 20644287 )
2010
39
Correction: choroid plexus carcinoma. ( 19415940 )
2009
40
Supratentorial, extraventricular choroid plexus carcinoma in an adult: case report. ( 19834361 )
2009
41
Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. ( 19795969 )
2009
42
Choroid plexus carcinoma: report of two cases. ( 19679976 )
2009
43
Platelet-derived growth factor receptor expression and amplification in choroid plexus carcinomas. ( 18157090 )
2008
44
Choroid plexus carcinoma. ( 18684041 )
2008
45
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. ( 18762572 )
2008
46
Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation. ( 18208484 )
2008
47
Letter to the editor. A case of inborn choroid plexus carcinoma. ( 24351311 )
2007
48
Rhabdoid choroid plexus carcinoma: a rare histological type. ( 17876420 )
2007
49
Choroid plexus carcinoma: a rare condition and its therapeutic management. ( 17594955 )
2007
50
Chemotherapy improves the survival of patients with choroid plexus carcinoma: a meta-analysis of individual cases with choroid plexus tumors. ( 17576522 )
2007

Variations for Choroid Plexus Cancer

ClinVar genetic disease variations for Choroid Plexus Cancer:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084

Cosmic variations for Choroid Plexus Cancer:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17
2 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17
3 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17
4 COSM1104 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 17

Expression for Choroid Plexus Cancer

Search GEO for disease gene expression data for Choroid Plexus Cancer.

Pathways for Choroid Plexus Cancer

Pathways related to Choroid Plexus Cancer according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 ATRX TP53

GO Terms for Choroid Plexus Cancer

Cellular components related to Choroid Plexus Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 8.92 RAD54L SMARCB1 TP53 TTR

Biological processes related to Choroid Plexus Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.43 ATRX RAD54L SMARCB1
2 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.16 ATRX TP53
3 determination of adult lifespan GO:0008340 8.96 RAD54L TP53
4 DNA strand renaturation GO:0000733 8.62 RAD54L TP53

Molecular functions related to Choroid Plexus Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 8.62 SMARCB1 TP53

Sources for Choroid Plexus Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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