MCID: CHR573
MIFTS: 48

Choroid Plexus Cancer

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Choroid Plexus Cancer

MalaCards integrated aliases for Choroid Plexus Cancer:

Name: Choroid Plexus Cancer 12 15 17
Choroid Plexus Carcinoma 12 54 30 6 45 15 74
Choroid Plexus Neoplasms 77 45 74
Tumor of the Choroid Plexus 12
Choroid Plexus Neoplasm 12
Tumor of Choroid Plexus 12
Choroid Plexus Tumors 56

Classifications:



External Ids:

Disease Ontology 12 DOID:3540 DOID:5648
SNOMED-CT 69 88252006

Summaries for Choroid Plexus Cancer

NIH Rare Diseases : 54 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.

MalaCards based summary : Choroid Plexus Cancer, also known as choroid plexus carcinoma, is related to rhabdoid tumor predisposition syndrome 1 and papilloma of choroid plexus, and has symptoms including vomiting and headache. An important gene associated with Choroid Plexus Cancer is TTR (Transthyretin), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. The drugs Carboplatin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and t cells, and related phenotypes are Decreased viability in esophageal squamous lineage and Increased proliferation

Disease Ontology : 12 A cerebral ventricle cancer that is located in the plexus located in the ventricles of the brain.

Wikipedia : 77 Choroid plexus papilloma, also known as papilloma of the choroid plexus, is a rare benign ... 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 94)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 32.3 SMARCB1 TP53
2 papilloma of choroid plexus 31.4 GFAP KCNJ13 TP53 TTR
3 ependymoma 30.3 GFAP TTR
4 rhabdoid cancer 30.2 SMARCB1 TP53
5 glioma susceptibility 1 30.0 GFAP TP53
6 gliosarcoma 29.6 GFAP TP53
7 atypical teratoid rhabdoid tumor 29.3 ATRX GFAP SMARCB1 TP53
8 adult choroid plexus cancer 12.4
9 childhood choroid plexus cancer 12.4
10 li-fraumeni syndrome 11.7
11 li-fraumeni syndrome 2 11.7
12 rhabdoid tumor predisposition syndrome 2 11.3
13 papillary ependymoma 10.3 GFAP TTR
14 melanotic medulloblastoma 10.3 GFAP SMARCB1
15 brown-sequard syndrome 10.3 GFAP TTR
16 rhabdoid meningioma 10.3 GFAP SMARCB1
17 nodular medulloblastoma 10.2 GFAP SMARCB1
18 tanycytic ependymoma 10.2 GFAP SMARCB1
19 cerebellopontine angle tumor 10.2 GFAP SMARCB1
20 vitreous disease 10.2 GFAP KCNJ13
21 myoepithelioma 10.2 GFAP SMARCB1
22 frontal convexity meningioma 10.1 GFAP TP53
23 gliofibroma 10.1 GFAP TP53
24 cerebral convexity meningioma 10.1 GFAP TP53
25 cellular ependymoma 10.1 GFAP TP53
26 protoplasmic astrocytoma 10.1 GFAP TP53
27 meninges sarcoma 10.1 GFAP TP53
28 central nervous system primitive neuroectodermal neoplasm 10.1 GFAP TP53
29 neurilemmoma 10.1 GFAP SMARCB1
30 cerebral neuroblastoma 10.1 GFAP TP53
31 mixed glioma 10.1 GFAP TP53
32 spinal cancer 10.1 GFAP TP53
33 ependymoblastoma 10.1 GFAP TP53
34 chordoid glioma 10.1 GFAP TP53
35 neuroma 10.1 GFAP SMARCB1
36 malignant ependymoma 10.1 GFAP TP53
37 spinal cord astrocytoma 10.1 GFAP TP53
38 gliomatosis cerebri 10.1 GFAP TP53
39 necrotizing sialometaplasia 10.1 GFAP TP53
40 cystic teratoma 10.1 GFAP TP53
41 teratoma 10.1 GFAP TP53
42 central nervous system benign neoplasm 10.1 GFAP TP53
43 small cell sarcoma 10.1 SMARCB1 TP53
44 epithelial-myoepithelial carcinoma 10.1 SMARCB1 TP53
45 adrenocortical carcinoma, hereditary 10.1
46 adrenal cortical carcinoma 10.1
47 adrenal cortical adenocarcinoma 10.1
48 lymphomatous meningitis 10.1
49 juvenile pilocytic astrocytoma 10.1 GFAP TP53
50 adult medulloblastoma 10.1 GFAP TP53

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.43 ATP2A3 GFAP RAD54L SMARCB1 TP53 TTR
2 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Choroid Plexus Cancer:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ATP2A3 ATRX GFAP SMARCB1 TP53 TTR
2 digestive/alimentary MP:0005381 9.35 GFAP KCNJ13 SMARCB1 TP53 TTR
3 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 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
2
leucovorin Approved Phase 2 58-05-9 143 6006
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
5
Etoposide Approved Phase 2 33419-42-0 36462
6
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
7
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
8
Vinblastine Approved Phase 2 865-21-4 241903 13342
9
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Antimetabolites Phase 2,Phase 1
12 Immunologic Factors Phase 2,Phase 1
13 Immunosuppressive Agents Phase 2,Phase 1
14 Antimetabolites, Antineoplastic Phase 2,Phase 1
15 Protein Kinase Inhibitors Phase 2,Phase 1
16 Topoisomerase Inhibitors Phase 2
17 topoisomerase I inhibitors Phase 2
18
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
19 Antineoplastic Agents, Alkylating Phase 2
20 Antimitotic Agents Phase 2
21 Vitamin B9 Phase 2
22 Folate Phase 2
23 Folic Acid Antagonists Phase 2
24 Dermatologic Agents Phase 2
25 Antineoplastic Agents, Phytogenic Phase 2
26 Nucleic Acid Synthesis Inhibitors Phase 2
27 Antirheumatic Agents Phase 2
28 Vitamin B Complex Phase 2
29 Etoposide phosphate Phase 2
30 Alkylating Agents Phase 2
31
Trametinib Approved Phase 1 871700-17-3 11707110
32
Lenograstim Approved, Investigational Phase 1 135968-09-1
33
Gemcitabine Approved Phase 1 95058-81-4 60750
34 Anti-Infective Agents Phase 1
35 Adjuvants, Immunologic Phase 1
36 Antiviral Agents Phase 1
37 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors Recruiting NCT03638167 Phase 1
3 HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors Recruiting NCT03500991 Phase 1
4 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors 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 HSV G207 in Children With Recurrent or Refractory Cerebellar Brain Tumors Not yet recruiting NCT03911388 Phase 1
7 Genetic Study of Newly Diagnosed Central Nervous System Tumors in Young Children Completed NCT00010114
8 Study of Stored Tumor Samples in Young Patients With Brain Tumors Recruiting NCT00897286
9 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
10 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 30

Anatomical Context for Choroid Plexus Cancer

MalaCards organs/tissues related to Choroid Plexus Cancer:

42
Brain, Eye, T Cells, Bone, Bone Marrow, Breast, Spinal Cord

The Foundational Model of Anatomy Ontology organs/tissues related to Choroid Plexus Cancer:

20
The Plexus

Publications for Choroid Plexus Cancer

Articles related to Choroid Plexus Cancer:

(show top 50) (show all 140)
# Title Authors Year
1
Myc and loss of p53 cooperate to drive formation of choroid plexus carcinoma. ( 30885981 )
2019
2
Multimodality characteristics of multifocal choroid plexus carcinoma with bilateral calvarial defects in a dog. ( 30892784 )
2019
3
Choroid Plexus Carcinoma in Adults: Two Case Reports. ( 31062532 )
2019
4
Structure-based design generated novel hydroxamic acid based preferential HDAC6 lead inhibitor with on-target cytotoxic activity against primary choroid plexus carcinoma. ( 31072216 )
2019
5
A Case of Giant Supratentorial Choroid Plexus Carcinoma in a Young Girl. ( 29320777 )
2018
6
A new genetically engineered mouse model of choroid plexus carcinoma. ( 29339161 )
2018
7
Choroid plexus carcinoma with neuronal and glial differentiation in a 7-week-old male Sprague-Dawley rat. ( 29459500 )
2018
8
Pediatric choroid plexus carcinoma: Biologically and clinically in need of new perspectives. ( 29528196 )
2018
9
Widely Metastatic Choroid Plexus Carcinoma Associated with Novel TP53 Somatic Mutation. ( 30099178 )
2018
10
Concurrent Gliosarcoma and Choroid Plexus Carcinoma in a Cow. ( 27899174 )
2017
11
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
12
A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). ( 28460341 )
2017
13
LC3A Silencing Hinders Aggresome Vimentin Cage Clearance in Primary Choroid Plexus Carcinoma. ( 28808307 )
2017
14
Successful multimodal treatment of a gigantic choroid plexus carcinoma (CPC) in an 8-year-old girl. ( 28889280 )
2017
15
Effect of Surgery, Adjuvant Therapy, and Other Prognostic Factors on Choroid Plexus Carcinoma: A Systematic Review and Individual Patient Data Analysis. ( 28939225 )
2017
16
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma. ( 28993730 )
2017
17
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma. ( 29025599 )
2017
18
Pre-operative embolization of a choroid plexus carcinoma: review of the vascular anatomy. ( 26248671 )
2016
19
Choroid plexus carcinoma with hyaline globules: An unusual histological feature. ( 27166059 )
2016
20
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? ( 25964589 )
2015
21
Response to combined radiotherapy and chemotherapy of a leptomeningeal spread from choroid plexus carcinoma: case report. ( 25308727 )
2015
22
Choroid plexus carcinoma in children: the Head Start experience. ( 25662896 )
2015
23
Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes. ( 25965574 )
2015
24
Concurrent Gain of Oncogenes Drives Choroid Plexus Carcinoma. ( 25998405 )
2015
25
Choroid plexus carcinoma in adults: an extremely rare case. ( 26161225 )
2015
26
Choroid Plexus Carcinoma in the External Ventricle of an Adult. ( 26439197 )
2015
27
USE OF RECOMBINANT ACTIVATED FACTOR VIIa IN A-SIX-MONTH-OLD CHILD DUE TO MASSIVE HEMORRHAGE DURING ELECTIVE SURGERY FOR CHOROID PLEXUS CARCINOMA: CASE REPORT. ( 26666113 )
2015
28
Gross total resection improves overall survival in children with choroid plexus carcinoma. ( 24166581 )
2014
29
A typical radiological presentation in a case of choroid plexus carcinoma. ( 24991466 )
2014
30
Intrauterine diagnosis and pathology of fetal choroid plexus carcinoma--a case study. ( 25034609 )
2014
31
Effects of adjuvant chemotherapy and radiation on overall survival in children with choroid plexus carcinoma. ( 25106865 )
2014
32
Pseudoprogression after proton beam irradiation for a choroid plexus carcinoma in pediatric patient: MRI and PET imaging patterns. ( 23151741 )
2013
33
Successful treatment of a recurrent choroid plexus carcinoma with surgery followed by high-dose chemotherapy and stem cell rescue. ( 23301664 )
2013
34
Recurrent adult choroid plexus carcinoma treated with high-dose chemotherapy and syngeneic stem cell (bone marrow) transplant. ( 23427033 )
2013
35
Coincident choroid plexus carcinoma and adrenocortical tumor in an infant. ( 22752623 )
2013
36
Adjuvant treatment of unresectable choroid plexus carcinoma with literature review. ( 29296333 )
2012
37
Imatinib mesylate treatment for platelet-derived growth factor receptor alfa-positive choroid plexus carcinoma. ( 24765448 )
2012
38
A rare case of congenital choroid plexus carcinoma. ( 22881717 )
2012
39
Choroid plexus carcinoma: Case report and review of literature. ( 22837788 )
2012
40
A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma. ( 22534715 )
2012
41
Choroid plexus carcinoma in an adult. ( 22346199 )
2012
42
Choroid plexus carcinoma: prenatal characterization by 3-dimensional sonography and magnetic resonance imaging, perinatal management, and natural history. ( 22298879 )
2012
43
The cytologic findings in choroid plexus carcinoma: report of a case with differential diagnosis. ( 22180231 )
2012
44
Melanotic choroid plexus carcinoma of the posterior fossa. ( 21779301 )
2011
45
Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. ( 21445348 )
2011
46
MGMT promoter methylation and temozolomide response in choroid plexus carcinoma. ( 21442238 )
2011
47
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. ( 21192060 )
2011
48
Simultaneous choroid plexus carcinoma and pilocytic astrocytoma in a pediatric patient. ( 20043745 )
2010
49
Hyperacute disseminated intravascular coagulation following surgery for a choroid plexus carcinoma in a child. ( 20644287 )
2010
50
Choroid plexus carcinoma cells in the cerebrospinal fluid of a Staffordshire Bull Terrier. ( 21070306 )
2010

Variations for Choroid Plexus Cancer

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-containing complex GO:0032991 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 damage response, signal transduction by p53 class mediator GO:0030330 9.16 ATRX TP53
2 determination of adult lifespan GO:0008340 8.96 RAD54L TP53
3 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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